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UniProtKB/Swiss-Prot P35670: Variant p.Arg919Gly

Copper-transporting ATPase 2
Gene: ATP7B
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Variant information Variant position: help 919
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glycine (G) at position 919 (R919G, p.Arg919Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Variant description: help In WD.
Other resources: help


Sequence information Variant position: help 919
Protein sequence length: help 1465
Location on the sequence: help IVKLVEEAQMSKAPIQQLAD R FSGYFVPFIIIMSTLTLVVW
Residue conservation: help
Human                         IVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVW

Mouse                         IVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIISTLTLVVW

Rat                           IVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIISTLTLVVW

Sheep                         IVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIISTVTLVVW

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1465 Copper-transporting ATPase 2
Topological domain 786 – 919 Cytoplasmic
Alternative sequence 234 – 1465 RPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI -> ETFIFC. In isoform 5.
Alternative sequence 911 – 955 Missing. In isoform 2.
Helix 912 – 920



Literature citations
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
Wu Z.Y.; Wang N.; Lin M.T.; Fang L.; Murong S.X.; Yu L.;
Arch. Neurol. 58:971-976(2001)
Cited for: VARIANTS VAL-390; ALA-406; LEU-456; GLY-723; ARG-832; ARG-875; VAL-929; LYS-952 AND ALA-1140; VARIANTS WD VAL-769; GLN-778; LEU-778; VAL-874; GLY-919; MET-935; ASP-943; PRO-1041; ILE-1106; HIS-1142; LYS-1173 AND SER-1270; Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Lee B.H.; Kim J.H.; Lee S.Y.; Jin H.Y.; Kim K.J.; Lee J.J.; Park J.Y.; Kim G.H.; Choi J.H.; Kim K.M.; Yoo H.W.;
Liver Int. 31:831-839(2011)
Cited for: VARIANTS WD ARG-108; VAL-729; GLN-778; LEU-778; TRP-827; VAL-874; ASP-891; 899-ILE--GLN-907 DEL; GLY-919; ASP-943; SER-943; GLN-969; MET-977; LEU-992; THR-1010; ALA-1024; ILE-1029; ALA-1031; VAL-1035; PHE-1083; TYR-1091; ILE-1106; THR-1148; CYS-1151; SER-1168; SER-1186; MET-1216; ALA-1267; SER-1270; LEU-1273 AND ASP-1295; CHARACTERIZATION OF VARIANTS WD TRP-827; THR-1010; CYS-1151 AND ASP-1295; Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
Li K.; Zhang W.M.; Lin S.; Wen L.; Wang Z.F.; Xie D.; Wei M.; Qiu Z.Q.; Dai Y.; Lin M.C.; Kung H.F.; Yao F.X.;
J. Hum. Genet. 58:67-72(2013)
Cited for: VARIANTS WD ASN-44; PHE-157; GLY-606; HIS-732; PRO-732; GLY-756; GLN-778; LEU-778; PHE-795; PRO-874; VAL-874; MET-890; GLY-919; ARG-921; ASP-943; TYR-975; TYR-980; PRO-987; LEU-992; CYS-1151; ALA-1178; GLU-1266; SER-1270 AND LEU-1273; VARIANT VAL-929; Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
Yamaguchi A.; Matsuura A.; Arashima S.; Kikuchi Y.; Kikuchi K.;
Hum. Mutat. Suppl. 1:S320-S322(1998)
Cited for: VARIANTS WD LEU-778; VAL-874; GLY-919; SER-1186; ALA-1267 AND SER-1270; Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
Shimizu N.; Nakazono H.; Takeshita Y.; Ikeda C.; Fujii H.; Watanabe A.; Yamaguchi Y.; Hemmi H.; Shimatake H.; Aoki T.;
Pediatr. Int. 41:409-413(1999)
Cited for: VARIANTS WD LEU-778; VAL-874; GLY-919; ILE-1029; VAL-1035; SER-1186 AND ASN-1222; Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Okada T.; Shiono Y.; Hayashi H.; Satoh H.; Sawada T.; Suzuki A.; Takeda Y.; Yano M.; Michitaka K.; Onji M.; Mabuchi H.;
Hum. Mutat. 15:454-462(2000)
Cited for: VARIANTS WD ILE-769; LEU-778; TRP-778; VAL-874; GLY-919; THR-1003; PHE-1083; SER-1186; ALA-1267; SER-1270; THR-1336 AND PRO-1373; VARIANTS ALA-406; LEU-456 AND ALA-1140; Two families with Wilson disease in which siblings showed different phenotypes.
Takeshita Y.; Shimizu N.; Yamaguchi Y.; Nakazono H.; Saitou M.; Fujikawa Y.; Aoki T.;
J. Hum. Genet. 47:543-547(2002)
Cited for: VARIANTS WD LEU-778; VAL-874 AND GLY-919; Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu Y.-H.; Kodama H.; Du S.-L.; Gu Q.-J.; Sun H.-J.; Ushijima H.;
Clin. Genet. 64:479-484(2003)
Cited for: VARIANTS WD VAL-85; GLY-765; LEU-778; MET-890; GLY-919; MET-935; TYR-975; LEU-992; ARG-1098; THR-1148; LYS-1173 AND ASN-1248; VARIANTS ASP-14; ALA-406; LEU-456; ARG-832; ALA-1140; ASN-1143 AND SER-1245; Genetic and clinical analysis in a cohort of patients with Wilson's disease in southwestern China.
Liu Y.; Zhou H.; Guo H.; Bai Y.;
Arch. Med. Res. 46:164-169(2015)
Cited for: VARIANTS WD LEU-778; GLY-919; LEU-992; LYS-1136 AND GLU-1149; VARIANT LEU-456;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.