PMID: 32333855

Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica et biophysica acta. Biomembranes
P Wiriyasermkul, S Moriyama, S Nagamori
2020-04-22

29 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-48427137-T-G SLC24A5 c.546T>G p.Ser182Arg Missense 5/9 -
5-33984412-C-T SLC45A2 c.277G>A p.Asp93Asn Missense 1/7 -
5-33947327-T-C SLC45A2 c.1309A>G p.Thr437Ala Missense 6/7 -
15-48426497-C-A SLC24A5 c.344C>A p.Ala115Glu Missense 3/9 -
15-28116316-G-A OCA2 c.2228C>T p.Pro743Leu Missense 21/24 -
15-48427137-T-A SLC24A5 c.546T>A p.Ser182Arg Missense 5/9 -
X-77266957-C-A ATP7A c.1958C>A p.Ser653Tyr Missense 9/23 -
5-33982434-C-T SLC45A2 c.469G>A p.Asp157Asn Missense 2/7 -
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
15-48427135-A-C SLC24A5 c.544A>C p.Ser182Arg Missense 5/9 -
15-28230247-C-T OCA2 c.1327G>A p.Val443Ile Missense 13/24 -
11-68855363-G-A TPCN2 c.2201G>A p.Gly734Glu Missense 25/25 -
15-48428880-G-A SLC24A5 c.591G>A p.Trp197* Nonsense 6/9 -
5-33944916-G-A SLC45A2 c.1430C>T p.Ala477Val Missense 7/7 -
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
15-48427181-G-A SLC24A5 c.590G>A p.Trp197* Nonsense 5/9 -
5-33947318-T-C SLC45A2 c.1318A>G p.Thr440Ala Missense 6/7 -
15-28228553-C-T OCA2 c.1441G>A p.Ala481Thr Missense 14/24 -
5-33964121-C-A SLC45A2 c.563G>T p.Gly188Val Missense 3/7 -
X-77284835-G-T ATP7A c.3005G>T p.Cys1002Phe Missense 15/23 -
11-68846399-A-C TPCN2 c.1450A>C p.Met484Leu Missense 16/25 -
15-48427112-G-A SLC24A5 c.521G>A p.Arg174Lys Missense 5/9 -
X-77266686-A-T ATP7A c.1883A>T p.Glu628Val Missense 8/23 -
11-68846399-A-T TPCN2 c.1450A>T p.Met484Leu Missense 16/25 -
15-28260053-G-A OCA2 c.913C>T p.Arg305Trp Missense 9/24 -
X-46513066-C-G SLC9A7 c.1122G>C p.Leu374Phe Missense 8/17 -
5-33944917-C-T SLC45A2 c.1429G>A p.Ala477Thr Missense 7/7 -
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
X-46513066-C-A SLC9A7 c.1122G>T p.Leu374Phe Missense 8/17 -