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146 variant records found

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID OMIA Phene-Species ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1177 OMIA001089-9542 Japanese macaque Antigen B ABO haplotype Naturally occurring variant no Allele B reflects the peptide haplotype p.266Met + p.268Ala 2000 10984838
20 OMIA001089-9541 crab-eating macaque A antigen ABO haplotype Naturally occurring variant no p.266L + p.268G Allele A is reflected in the peptide haplotype p.266Leu + p.268Gly 1998 9583803
21 OMIA001089-9544 Rhesus monkey Antigen A ABO haplotype Naturally occurring variant no p.266L + p.268G Allele A is reflected in the peptide haplotype p.266Leu + p.268Gly 1998 9583803
1174 OMIA001089-9544 Rhesus monkey Antigen B ABO haplotype Naturally occurring variant no p.266M + p.268A Allele B is a reflection of the peptide haplotype p.266Met + p.268Ala 1998 9583803
1175 OMIA001089-9541 crab-eating macaque B antigen ABO haplotype Naturally occurring variant unknown p.266M + p.268A Allele B is a reflection of the peptide haplotype p.266Met + p.268Ala 1998 9583803
22 OMIA001089-9579 agile gibbon Alleles A and B ABO missense Naturally occurring variant no c.2178C>A and c.2185G>C Haplotype c.2178C + c.2185G is allele A; haplotype c.2178A + c.2185C is allele B 2009 19298858
23 OMIA001089-9580 common gibbon Blood group system ABO ABO missense Naturally occurring variant no c.2178C>A and c.2185G>C 2009 19298858
532 OMIA001089-9598 chimpanzee O (lack of antigen) ABO O^del deletion, small (<=20) Naturally occurring variant no c.514_522delGTGCTGGAG p.(V172-E174del) 1999 10380696
24 OMIA001089-9598 chimpanzee O (lack of antigen) ABO O^x missense Naturally occurring variant no c.791A>C p.(Y264C) 1999 10380696
665 OMIA000201-10042 North American deer mouse New Hampshire Melanic (non-agouti) ASIP deletion, gross (>20) Naturally occurring variant no "a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression" 2009 19649329
667 OMIA000201-9627 red fox Dark Standard Silver ASIP deletion, gross (>20) Naturally occurring variant no "A deletion in the first coding exon of the agouti gene" 1997 9054949
1321 OMIA002200-9915 zebu Brahman Nellore Darkness of hair coat ASIP delins, gross (>20) Naturally occurring variant unknown 13 1155-bp deletion followed by an insertion of a transposable element of more than 150 bp that may impact the recruitment of ASIP non-coding exons (Trigo et al.2021) 2021 33910501
251 OMIA000201-61386 Kodkod Melanism (black coat) ASIP missense Naturally occurring variant no p.(C126Y) 2015 25695801
252 OMIA000201-61406 Colocolo Melanism (black coat) ASIP missense Naturally occurring variant no p.(R120C) 2015 25695801
1119 OMIA000201-10141 domestic guinea pig Recessive black Asip deletion, small (<=20) Naturally occurring variant no c.181_184delTTCA MH026115: c.181_184delTTCA; the deletion leads to a truncated protein of 77 amino acids due to the premature stop codon. 2019 30746725
330 OMIA000201-10042 North American deer mouse Alaska Melanic (non-agouti) ASIP nonsense (stop-gain) Naturally occurring variant no c.193?>? p.(Q65*) 2009 19649329
333 OMIA000201-9691 leopard Black panther ASIP nonsense (stop-gain) Naturally occurring variant no c.333C>A p.(C111*) 2012 23251368
1219 OMIA000201-9858 Western roe deer Melanistic (black) ASIP missense Naturally occurring variant no c.33G>T p.(L11F) 2020 32545389
149 OMIA000201-9793 ass No light points ASIP NLP missense Naturally occurring variant no c.349T>C p.(C117R) 2015 25887951
253 OMIA000201-61455 Asiatic golden cat Black ASIP missense Naturally occurring variant no c.384C>G p.(C128W) 2012 23251368
1010 OMIA000201-9838 Arabian camel Black and dark-brown coat colour ASIP haplotype Naturally occurring variant no c.[23delT;c.25G>A] KU179868; c.[23delT;c.25G>A]. As described by Almathen et al. (2018), this haplotype comprises "a 1-bp deletion (23delT/T) and a SNP (25G/A) in exon 2 of ASIP". 2018 29893870
1270 OMIA000213-89462 water buffalo White ASIP insertion, gross (>20) Naturally occurring variant no UOA_WB_1 14 "2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene" (Liang et al. (2020) 2021 33212507
1131 OMIA002216-9544 Rhesus monkey Bardet-Biedl syndrome 7 BBS7 deletion, small (<=20) Naturally occurring variant yes Mmul_8.0.1 c.160delG p.(A54fs) 2019 31589838
1375 OMIA002466-48883 OMIA002466-48882 OMIA002466-87173 OMIA002466-48884 OMIA002466-48885 OMIA002466-48886 OMIA002466-1553461 medium ground-finch Beak colour, yellow BCO2 synonymous Naturally occurring variant no 24 g.6166878G>A p.(V?V) synonymous change 32 bp into exon 4 2021 34687609
516 OMIA001416-9612 gray wolf Coat colour, dominant black CBD103 K^B deletion, small (<=20) Naturally occurring variant no 3bp deletion of the CBD103 gene 2009 19197024
520 OMIA001416-9614 coyote Coat colour, dominant black CBD103 deletion, small (<=20) Naturally occurring variant no 3bp deletion of the CBD103 gene 2009 19197024
1340 OMIA002386-9544 Rhesus monkey OKT4 epitope deficiency CD4 missense Naturally occurring variant unknown 11 c.C793T p.(A265W) 2021 33893743
863 OMIA001890-198806 ruff Male body size/courtship behaviour CENPN inversion Naturally occurring variant unknown "a 4.5Mb inversion on the ruff orthologue of chicken chromosomr GGA11 which, due to the well-known lethality of recombinants within an inversion, has created a supergene determining male breeding behaviour, body size and plumage colour" 2016 26569123
399 OMIA000698-89462 water buffalo Myotonia CLCN1 splicing Naturally occurring variant yes c.396C>T 2013 23339992
1030 OMIA001962-9542 Japanese macaque Neuronal ceroid lipofuscinosis, 7 CLN7 deletion, small (<=20) Naturally occurring variant yes 4 c.769delA p.(I257Lfs*36) 2018 30048804
1012 OMIA002159-9694 tiger Golden tiger CORIN missense Naturally occurring variant no c.1759C>T p.(H587Y) 2017 28281538
1176 OMIA000168-10141 domestic guinea pig Cataract Cryz splicing Naturally occurring variant yes "a 102-bp deletion towards the 3' end of the coding region. This deletion does not interfere with the reading frame but results in a protein 34 amino acids shorter." (Rodriguez et al., 1992) 1992 1390943
1335 OMIA002377-8845 swan goose Lion Head Sichuan White Knob, basal DIO2 missense Naturally occurring variant no AnsCyg_PRJNA183603_v1.0 NW_013185827.1 g.642923G>A p.(P265L) 2021 34193033
724 OMIA001695-8090 Japanese medaka Reduced scale-3 edar insertion, gross (>20) Naturally occurring variant yes "several kb of extra sequence in the 5' UTR that . . . contains out-of-frame start codons and stop codons, [and consequently] the mutant transcript is likely to result in premature initiation and termination of translation and, as a result, the EDAR protein is not synthesized" 2001 11516953
1164 OMIA001252-8843 domestic goose Gang Feather colour, recessive white EDNRB2 insertion, small (<=20) Naturally occurring variant no AnsCyg_PRJNA183603_v1.0 g.750748_750735insCACAGGTGAGCTCT "NW_013185915.1: g. 750,748-750,735 insertion. CACAGGTGAGCTCT" (Xi et al., 2020) 2020 32066369
1 OMIA000240-8932 rock pigeon Crest EPHB2 cr missense Naturally occurring variant no c.???C>T p.(R758C) 2013 23371554
148 OMIA000361-9783 Asiatic elephant Factor VII deficiency F7 missense Naturally occurring variant yes c.202A>G p.(R68G) 2017 28118558
983 OMIA000439-9844 llama Long hair FGF5 complex rearrangement Naturally occurring variant no A "a single base deletion (c.348delA), [and] a 12-bp insertion (c.351_352insCATATAACATAG)" that comprise a single likely causal variant 2017 29024003
347 OMIA000439-9793 ass Hair, long FGF5 nonsense (stop-gain) Naturally occurring variant no c.245G>A 2014 25927731
982 OMIA000439-10141 domestic guinea pig Long hair Fgf5 nonsense (stop-gain) Naturally occurring variant no c.403C>T p.(R135*) "The data were submitted to the European Variation Archive (accession no. PRJEB24997)" 2018 29603294
560 OMIA000439-9793 ass Hair, long FGF5 deletion, small (<=20) Naturally occurring variant no c.433_434delAT 2014 25927731
984 OMIA000439-9844 llama Long hair FGF5 nonsense (stop-gain) Naturally occurring variant no c.499C>T 2017 29024003
1343 OMIA000439-9838 Arabian camel Long hair FGF5 missense Naturally occurring variant no CamDro3 2 g.76625546C>T c.779C>T p.(P260L) cDNA and protein positions based on transcript ENSCDRT00005003721.1 2021 34432312
517 OMIA000578-9544 Rhesus monkey Krabbe disease GALC deletion, small (<=20) Naturally occurring variant yes c.387delAC 1997 9192853
190 OMIA001473-9915 zebu Brahman Dwarfism, growth-hormone deficiency GH1 missense Naturally occurring variant yes c.641C>T p.(T200M) Bos indicus cDNA position based on AF034386, protein position based on AAB92549 2009 19524387 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
677 OMIA001920-27706 largemouth bass Abortion due to deletion in GHRH GHRH deletion, gross (>20) Naturally occurring variant yes a 66bp deletion (c.-923_-858del) in the 5' flanking region of the GHRH gene in an autosomal recessive embryonic lethal 2014 24697798
1178 OMIA001461-9217 American flamingo Tay-Sachs disease HEXA missense Naturally occurring variant yes c.1406C>T p.(P469L) 2008 18693054
789 OMIA002116-69293 three-spined stickleback Coat colour, albinism, oculocutaneous, HPS5-related Hps5 casper insertion, small (<=20) Naturally occurring variant yes "casper mutants have an insertion of a single nucleotide in the 6th exon of Hsp5, predicted to generate an early frameshift" 2017 28739598
331 OMIA001348-9544 Rhesus monkey Atrichia with papular lesions HR nonsense (stop-gain) Naturally occurring variant yes MMUL_1 8 g.22046679C>T c.1831C>T p.(R611*) 2002 11831740 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
962 OMIA001675-61379 black-footed cat Cone-rod dystrophy 2 IQCB1 deletion, small (<=20) Naturally occurring variant yes c.1282delCT p.(L428*) 2017 28322220
566 OMIA001737-9838 Arabian camel Coat colour, white spotting, KIT-related KIT deletion, small (<=20) Naturally occurring variant no c.1842delG p.(M614Ifs*5) 2017 28282952
403 OMIA000209-494514 Arctic fox Coat colour, dominant white KIT splicing Naturally occurring variant no c.1867+1G>T 2013 24308634
405 OMIA001737-9793 ass Coat colour, white spotting, due to KIT KIT Ws splicing Naturally occurring variant no c.1978+2T>A 2015 25818843
1102 OMIA000209-30538 alpaca Classic grey coat colour KIT missense Naturally occurring variant no c.376G>A p.(G126R) 2019 31297861
150 OMIA000209-9793 ass Coat colour, dominant white KIT W missense Naturally occurring variant no c.662A>C p.(Y221S) 2015 25818843
1152 OMIA002237-8090 Japanese medaka Few melanophore kitlga insertion, gross (>20) Naturally occurring variant no Otsuki et al. (2020): "the phenotype of fm medaka is attributable to insertion of a Tcb1-like transposon at the kitlga locus" 2020 31757930
1046 OMIA001701-13146 budgerigar Feater colour, blue LOC101880715 missense Naturally occurring variant no 1 p.(R644W) 2017 28985565
605 OMIA001721-32536 cheetah Coat colour, king LVRN insertion, small (<=20) Naturally occurring variant no p.(N977Kfs*110) 2012 22997338
518 OMIA000185-452646 American mink Chediak-Higashi syndrome LYST deletion, small (<=20) Naturally occurring variant yes c.9468delC 2013 22762706
1359 OMIA002449-94885 corn snake Skin colour, lavender LYST nonsense (stop-gain) Naturally occurring variant no c.9508C>T p.(Q3169*) 2020 33020272
249 OMIA000625-10141 domestic guinea pig Mannosidosis, alpha Man2b1 missense Naturally occurring variant yes c.679C>T p.(R227W) 2002 11959458
674 OMIA001199-30640 gray squirrel Melanism (black) MC1R E^B deletion, gross (>20) Naturally occurring variant no MC1RΔ24 allele E^B ["at amino acid positions 87-94"] 2009 19643815
1007 OMIA001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*4) deletion, gross (>20) Naturally occurring variant no Vidal (2018): "a deletion of 2760 bp, including the entire MC1R coding region" 2018 30101449
115 OMIA001199-9627 red fox Coat colour, extension MC1R missense Naturally occurring variant no p.(C125R) 1997 9054949
250 OMIA001199-46844 Geoffroy's cat Melanism (black coat) MC1R missense Naturally occurring variant no p.(C125R) 2015 25695801
1002 OMIA002156-46218 Chinese painted quail Feather colour, Blue Face MC1R missense Naturally occurring variant no p.(E92K) 2018 29974967
1328 OMIA000374-495946 Eleonora's falcon Feather colour, extended black MC1R deletion, small (<=20) Naturally occurring variant no p.(M114_V117del) 2011 21696477
1100 OMIA000374-57662 red-footed booby White plumage MC1R haplotype Naturally occurring variant no p.(M85V) + p.(R207H) 2007 17602182
1003 OMIA002155-46218 Chinese painted quail Feather colour, Red Breasted MC1R missense Naturally occurring variant no p.(P292L) 2018 29974967
1173 OMIA001199-37349 woolly mammoth Light hair colour MC1R missense Naturally occurring variant no p.(R67C) 2006 16825562
1101 OMIA000374-70340 Lesser snow goose Blue plumage MC1R missense Naturally occurring variant no p.(V85M) 2004 15031505
262 OMIA001199-494514 Arctic fox Blue coat colour MC1R Ed missense Naturally occurring variant no p.[(G5C);(F280C)] The blue (Ed) allele is a haplotype comprising two missense variants (p.Gly5Cys and p.Phe280Cys) (Våge et al., 2005) 2005 15982782
1271 OMIA001199-30532 fallow deer White coat colour MC1R missense Naturally occurring variant no c.143T>C p.(L48P) NM_174108.2:c.143T>C; NP_776533.1:p.(L48P) 2020 33213385
180 OMIA001199-9870 reindeer Coat colour, extension MC1R missense Naturally occurring variant no c.218T>C p.(M73T) 2014 25039753
1350 OMIA001199-9915 zebu Guzerat Red MC1R deletion, small (<=20) Naturally occurring variant no c.311delT p.(G104Vfs*) 2021 34555208
18 OMIA001494-9103 turkey Feather colour, dominant black MC1R missense Naturally occurring variant no c.364A>T p.(I122F) 2010 20634512
116 OMIA001199-9627 red fox Coat colour, extension MC1R missense Naturally occurring variant no c.373C>T p.(C125R) 2016 27072328
1329 OMIA000374-120794 gyrfalcon Feather colour, extended black MC1R missense Naturally occurring variant no c.376A>G p.(I126V) 2012 22497627
996 OMIA001199-9793 ass Miniature Donkey Normand Red coat colour MC1R e missense Naturally occurring variant no c.629T>C p.(M210T) 2014 25155046
1006 OMIA001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*2) missense Naturally occurring variant no c.749T>C p.(L250Q) 2018 30101449
181 OMIA001199-9870 reindeer Coat colour, extension MC1R missense Naturally occurring variant no c.839T>G p.(F280C) 2014 25039753
1351 OMIA001199-9915 zebu Sahiwal Red MC1R missense Naturally occurring variant no c.844C>A p.(T281 N) 2021 33512595
1346 OMIA001199-37190 antarctic fur seal Hypopigmentation (blond) MC1R missense Naturally occurring variant unknown c.872C>T p.(S291F) 2016 27547348
19 OMIA001494-9103 turkey Feather colour, black-wing bronze MC1R missense Naturally occurring variant no c.887C>T p.(A296V) 2010 20634512
1009 OMIA001199-9838 Arabian camel White coat colour MC1R missense Naturally occurring variant no c.901C>T p.(R301C) KU179867; c.901C>T; p.R301C 2018 29893870
328 OMIA001494-9103 turkey Bronze feathers MC1R nonsense (stop-gain) Naturally occurring variant no c.96G>A 2010 20634512
1287 OMIA002309-9646 giant panda Cataract MIP missense Naturally occurring variant yes c.686G>A p.(S229N) 2021 33530927
341 OMIA000214-89462 water buffalo Swamp White spotting MITF nonsense (stop-gain) Naturally occurring variant no c.328C>T p.(R110*) 2015 26417640
409 OMIA000214-89462 water buffalo Swamp White spotting MITF splicing Naturally occurring variant no c.840+2T>A 2015 26417640
1205 OMIA001680-452646 American mink Hedlund MITF h splicing Naturally occurring variant yes MusPutFur1.0.86 c.33+1G>A GL896899.1:18635719 G/A (MITF-M C.33 + 1 G > A (Manakhov et al., 2017) 2019 30872653
1209 OMIA001654-8932 rock pigeon Almond MLANA st repeat variation Naturally occurring variant yes "The CNV captures a 77-kb segment of the reference genome (ScoHet5_227: 5,181,467–5,259,256), with an additional increase in coverage in a nested 25-kb segment (ScoHet5_227: 5,201,091–5,226,635). Read-depth analysis confirmed 7 copies of the outer 77-kb segment and 14 copies of the inner 25-kb segment in the genomes of female (ZStW) Almond pigeons, which have an St locus on only one chromosome. We used PCR to amplify across the outer and inner CNV breakpoints of Almond pigeons and determined that the CNV consists of tandem repeats of the 77-kb and nested 25-kb segments (Fig 3)." (Bruders et al., 2020) 2020 32433666
1014 OMIA002145-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MLH1-related MLH1 nonsense (stop-gain) Naturally occurring variant yes 2 Bray et al. (2018): "a de novo stop codon in the coding region of MLH1. This de novo stop codon occurs in exon 11 out of 19 in the MLH1 gene, and thus would produce a dramatically truncated and possibly non-functional protein" 2018 30108684
1013 OMIA002145-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MLH1-related MLH1 deletion, small (<=20) Naturally occurring variant yes 2 g.99561829_99561830del Brammer et al. (2018): "a heterozygous deletion in the putative promoter region of the MLH1 gene (rheMac2: 2:99,561,829– 99,561,830; hg19: ∼3:37,034,780; c.−258_259)" 2018 29490919
672 OMIA000031-452646 American mink Coat colour, silver-blue MLPH deletion, gross (>20) Naturally occurring variant no deletion of exon 8 2013 23747352
1204 OMIA000031-452646 American mink Silverblue MLPH p splicing Naturally occurring variant no MusPutFur1.0.86 g.662639G>A c.901+1G>A GL896909.1:662639 G/A (MLPH C.901 + 1 G > A) (Manakhov et al., 2019) 2019 30872653
1015 OMIA002160-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MSH6-related MSH6 missense Naturally occurring variant unknown Dray et al. (2018): "a heterozygous missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene" 2018 30108684
519 OMIA001342-8790 emu Mucopolysaccharidosis IIIB NAGLU deletion, small (<=20) Naturally occurring variant yes c.1098_1099delGG 2001 11414757
1064 OMIA002189-8932 rock pigeon Barless NDP c start-lost Naturally occurring variant no Cliv_1.0 Vickrey et al. (2018): "a nonsynonymous protein-coding change at the start codon of NDP". 2018 30014848
747 OMIA001771-7091 domestic silkworm "Ming" lethal egg NEWENTRY complex rearrangement Naturally occurring variant yes an ~1.9 kb region from the 3' untranslated region of BmVMP23 to the forepart of BmEP80 was replaced by a >100 kb DNA fragment 2013 23262333
865 OMIA002130-94885 corn snake Coat colour, oculocutaneous albinism, OCA2-related OCA2 insertion, gross (>20) Naturally occurring variant yes LTR retrotransposon in the 11th intron 2015 26597053
1022 OMIA002163-9544 Rhesus monkey Cone dystrophy 4, PDE6C-related PDE6C missense Naturally occurring variant yes Mmul_8.0.1 9 p.(R565Q) 2019 30667376
1212 OMIA002270-8932 rock pigeon Feathered shank PITX1 deletion, gross (>20) Naturally occurring variant no "a 44-kb deletion (from 6.719–6.763 Mb)" (Domyan et al., 2016) 2016 26977633
540 OMIA001545-30521 domestic yak Coat colour, dilution PMEL deletion, small (<=20) Naturally occurring variant no c.50_52del p.(L18del) 2014 24989079
845 OMIA000483-30521 domestic yak Polled, Mongolian allele POLLED P[sub]M or P[sub]219ID complex rearrangement Naturally occurring variant no "a complex 219-bp duplication-insertion (P219ID) beginning at 1,976,128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position . . . . This rearrangement results in duplication of an 11-bp motif (5'-AAAGAAGCAAA-3') that is entirely conserved among Bovidae . . . and that is also duplicated in the 80-kb duplication responsible for Friesian polledness" 2017 28135247
977 OMIA000380-9103 turkey Feathering, Z-linked PRLR deletion, small (<=20) Naturally occurring variant unknown Turkey_5.1 Z g.9426018_9426022delTTGGT p.(E726Dfs*7) 2018 29566646
1256 OMIA002292-452646 American mink Moyle coat colour RAB38 deletion, small (<=20) Naturally occurring variant no NNQGG.v01 1 g.16075438_16075453del c.574-589del "We identified a homozygous 16-bp deletion [FNWR01000007.1:16075438–16075453del (RAB38:c.574-589del)], hereinafter referred to as RAB383del, in the Moyle sample, at the third exon of RAB38 gene. We found a homozygous 2-bp duplication NWR01000007.1:16132224_16132225dupCT (RAB38:c.20-21dup)], hereinafter referred to as RAB381dup, in the Violet sample, at the first exon of the RAB38 gene. Both mutations potentially resulted in the loss of function of RAB38 protein" (Manakhov et al., 2020) 2020 32985525
1257 OMIA002292-452646 American mink Moyle coat colour RAB38 duplication Naturally occurring variant no NNQGG.v01 1 g.16132224_16132225dupCT c.20-21dup "We identified a homozygous 16-bp deletion [FNWR01000007.1:16075438–16075453del (RAB38:c.574-589del)], hereinafter referred to as RAB383del, in the Moyle sample, at the third exon of RAB38 gene. We found a homozygous 2-bp duplication NWR01000007.1:16132224_16132225dupCT (RAB38:c.20-21dup)], hereinafter referred to as RAB381dup, in the Violet sample, at the first exon of the RAB38 gene. Both mutations potentially resulted in the loss of function of RAB38 protein" (Manakhov et al., 2020) 2020 32985525
1099 OMIA002209-7950 Atlantic herring Adaptation to a red-shifted light environment rho missense Naturally occurring variant no p.(F261Y) 2019 31451650
1349 OMIA001308-8932 rock pigeon Short beak ROR2 Ku2 missense Naturally occurring variant no Cliv_2.1 c.1087C>T Genomic position on scaffold ScoHet5_445.1:6568443; non-reference allele causes an arginine-to-cysteine substitution in the seventh exon of ROR2 (Boer et al., 2021) 2021 34551284
1427 OMIA002531-74940 Chinook salmon XY female sdY missense Naturally occurring variant yes p.(I183N) 2022 35100376
1298 OMIA002416-8932 rock pigeon Pearl-eye SLC2A11B tr nonsense (stop-gain) Naturally occurring variant no AKCR02000030.1 g.1895934G>A p.(W49X) Andrade et al. (2021): "This mutation creates a premature STOP codon in exon 3 of the likely canonical SLC2A11B transcript." 2021 33621224
746 OMIA001821-8090 Japanese medaka Coat colour, albinism, oculocutaneous type IV slc45a2 complex rearrangement Naturally occurring variant yes an inversion of 167 bp, an insertion of 48 bp, and a deletion of 172 bp 2008 18245373
254 OMIA000213-74535 Bengal tiger Coat colour, white SLC45A2 missense Naturally occurring variant no C>T p.(A477V) 2013 23707431
861 OMIA001821-9593 western gorilla Coat colour, albinism, oculocutaneous type IV SLC45A2 missense Naturally occurring variant yes gorGor3.1 17 g.59753498G>C c.1552G>C p.(G518R) 2013 23721540 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1065 OMIA002190-8932 rock pigeon Recessive red SOX10 e^1 deletion, gross (>20) Naturally occurring variant no Domyan et al. (2014) reported a 7.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes" 2014 24508169
1066 OMIA002190-8932 rock pigeon Recessive red SOX10 e^2 deletion, gross (>20) Naturally occurring variant no Domyan et al. (2014) reported a 2.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes" 2014 24508169
1438 OMIA002537-9541 crab-eating macaque Encephalopathy, STXBP1-related STXBP1 missense yes c. 875G>A p. (R292H) 2022 35283272
1348 OMIA002431-9694 tiger Pseudomelamism Taqpep missense Naturally occurring variant no PanTig1.0 A1 c.1360C>T p.H454Y Sagar et al. (2021): "[Assembly PanTig1.0(GCF_000464555.1)]. . . . (Taqpep c.1360C > T); XP_007086933.1) of the protein (Taqpep p.H454Y)" 2021 34518374
668 OMIA001617-32536 cheetah Sweet taste, lack TAS1R2 deletion, gross (>20) Naturally occurring variant yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
670 OMIA001617-9694 tiger Sweet taste, lack TAS1R2 deletion, gross (>20) Naturally occurring variant yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
1122 OMIA002213-9447 Ring-tailed lemur Bitter taste TAS2R16 missense Naturally occurring variant no p.(S282L) 2019 31161904
1277 OMIA001972-9793 ass Non-dun TBX3 deletion, small (<=20) Naturally occurring variant no 8 g.42742557delT "This 1 bp deletion (chr8:g.42742556 CT>C−) is located ~18.6 kb downstream of the transcription start site of the TBX3 gene." (Wang et al., 2020) 2020 33293529
397 OMIA000162-9103 turkey Cardiomyopathy, dilated TNNT2 splicing Naturally occurring variant yes delGGGCTCCTC 2002 11886865
1339 OMIA002385-7950 Atlantic herring Spring spawning tshr missense Naturally occurring variant no Ch_v2.0.2 15 g.8906859C>A c.1411C>A p.(L471M) cDNA position based on transcript ENSCHAT00000005367.1 2021 34172814
666 OMIA000202-9669 domestic ferret Coat colour, albinism TYR deletion, gross (>20) Naturally occurring variant yes "deletion of exon 4" 2007 17655555
723 OMIA000202-8090 Japanese medaka Coat colour, albinism tyr insertion, gross (>20) Naturally occurring variant yes a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase 1995 8552044
1027 OMIA000202-9773 humpback whale Migaloo, the white whale TYR deletion, small (<=20) Naturally occurring variant yes "(264 del C) at codon 88" 2012 22140253
1304 OMIA000202-476259 Japanese raccoon dog Albinism TYR complex rearrangement Naturally occurring variant yes Mae et al. (2020): "the third exon was removed due to a deletion ... :two separate regions of 3.8 kb and 7.3 kb had been removed, but a segment of 0.3 kb between these two regions was retained, though was present in the reverse orientation." 2020 32783776
1162 OMIA000202-9557 hamadryas baboon Siamese coat colour pattern TYR missense Naturally occurring variant no p.(A365T) ENSPANT00000015629.2:c.1093G>A; A0A096MRE4:p.(Ala365Thr) [Koga et al., 2020] 2020 32053406
813 OMIA000202-8410 Japanese wrinkled frog Albinism TYR missense Naturally occurring variant yes c.1127G>A p.(G376D) 2018 28674275
814 OMIA000202-8409 dark-spotted frog Albinism TYR insertion, small (<=20) Naturally occurring variant yes c.1244_1245insT 2018 28674275
332 OMIA000202-452646 American mink Albinism TYR nonsense (stop-gain) Naturally occurring variant yes c.138T>A p.(C46*) 2008 18822100
329 OMIA000202-89462 water buffalo Albinism TYR nonsense (stop-gain) Naturally occurring variant yes c.1431G>A p.(W477*) 2012 22817390
812 OMIA000202-1772025 Rice frog Albinism TYR missense Naturally occurring variant yes c.169G>A p.(G57R) 2018 28674275
260 OMIA000202-452646 American mink Himalayan TYR missense Naturally occurring variant no c.1835C>G p.(H420Q) 2009 19308642
1011 OMIA000202-9689 lion White lion TYR missense Naturally occurring variant no c.260G>A p.(R87Q) 2013 24045858
1118 OMIA000202-9627 red fox Albinism TYR insertion, small (<=20) Naturally occurring variant yes c.365dupA MK724068: c.365dupA 2019 31246286
151 OMIA000202-9793 ass Coat colour, albinism TYR missense Naturally occurring variant yes c.604C>G p.(H202D) 2016 26763160
355 OMIA000202-9515 Tufted capuchin Coat colour, albinism TYR nonsense (stop-gain) Naturally occurring variant yes c.64C>T p.(R22*) 2017 28476152
816 OMIA000202-8409 dark-spotted frog Albinism TYR deletion, small (<=20) Naturally occurring variant yes c.682_684del p.(L228del) 2018 28674275
1004 OMIA000202-10141 domestic guinea pig Coat colour, albinism Tyr missense Naturally occurring variant no c.710A>G p.(D237G) PRJEB26285 2018 29947431
815 OMIA000202-8409 dark-spotted frog Albinism TYR insertion, small (<=20) Naturally occurring variant yes c.768_769insT 2018 28674275
1303 OMIA000202-31143 Japanese ratsnake Coat colour, oculocutaneous albinism TYR albino - pet trade nonsense (stop-gain) Naturally occurring variant yes c.895C>T p.(R299X) 2018 30158334
1159 OMIA000202-9860 red deer White TYR missense Naturally occurring variant no CerEla 1.0 2 c.871G>A p.(G291R) 2020 32041521
1255 OMIA001249-452646 American mink American Palomino coat colour TYRP1 b^p insertion, gross (>20) Naturally occurring variant no "a large insertion of approximately eight kb. The insertion most likely disrupts different elements necessary for the splicing of intron 2 of the TYRP1 gene" (Cicera et al., 2016) 2016 26886941
753 OMIA002061-345164 Saker falcon Feather colour, light brown TYRP1 complex rearrangement Naturally occurring variant no c.79C>T and c.79_80insT in exon 1, resulting in "a frameshift change and a premature stop codon at position 81 of the deduced protein sequence, which in the wild-type form contains 536 amino acids. 2017 27611661
Overall Statistics
Total number of variants 146
Variants with genomic location 19 (13.0% )
Variants in a variant database, i.e. with rs ID 1 (0.7%)
Variant Type Count Percent
complex rearrangement 6 4.1%
deletion, gross (>20) 12 8.2%
deletion, small (<=20) 21 14.4%
delins, gross (>20) 1 0.7%
duplication 1 0.7%
haplotype 7 4.8%
insertion, gross (>20) 6 4.1%
insertion, small (<=20) 6 4.1%
inversion 1 0.7%
missense 59 40.4%
nonsense (stop-gain) 15 10.3%
repeat variation 1 0.7%
splicing 8 5.5%
start-lost 1 0.7%
synonymous 1 0.7%
Year First Reported Count Percent
1992 1 0.7%
1993 0 0.0%
1994 0 0.0%
1995 1 0.7%
1996 0 0.0%
1997 3 2.1%
1998 4 2.7%
1999 2 1.4%
2000 1 0.7%
2001 2 1.4%
2002 3 2.1%
2003 0 0.0%
2004 1 0.7%
2005 3 2.1%
2006 1 0.7%
2007 2 1.4%
2008 3 2.1%
2009 9 6.2%
2010 3 2.1%
2011 1 0.7%
2012 6 4.1%
2013 9 6.2%
2014 9 6.2%
2015 9 6.2%
2016 6 4.1%
2017 11 7.5%
2018 20 13.7%
2019 9 6.2%
2020 12 8.2%
2021 13 8.9%
2022 2 1.4%