Sequence information
Variant position: 1101 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1465 The length of the canonical sequence.
Location on the sequence: G IGCKVSNVEGILAHSERPLS
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human EELGTETLGYCTDFQAVPGCG IGCKVSNVEGILAHSERPLS
Mouse EELGTETLGYSTDFQAVPGCG ISCKVSNVEGILARSD----
Rat EELGTETLGYSTDFQAVPGCG ISCKVSNVESILAHRG----
Sheep EELGTETLGCCMDFQAVPGCG ISCKVSSVESILAQGERLQG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 1465 Copper-transporting ATPase 2
Topological domain
995 – 1322 Cytoplasmic
Alternative sequence
234 – 1465 RPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI -> ETFIFC. In isoform 5.
Beta strand
1101 – 1107
Literature citations
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
Luoma L.M.; Deeb T.M.; Macintyre G.; Cox D.W.;
Hum. Mutat. 31:569-577(2010) Cited for: VARIANTS WD MET-991; ARG-1000; PRO-1043; ARG-1101; THR-1102; THR-1148; GLY-1173; GLU-1176; THR-1228; GLY-1239; VAL-1267 AND SER-1287; CHARACTERIZATION OF VARIANTS WD MET-991; ARG-1000; PRO-1043; ARG-1101; THR-1102; THR-1148; GLY-1173; GLU-1176; THR-1228; GLY-1239; VAL-1267 AND SER-1287;
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Guggilla S.R.; Senagari J.R.; Rao P.N.; Madireddi S.;
Gene 569:83-87(2015) Cited for: VARIANTS WD PRO-990; VAL-1003; ARG-1010; TRP-1041; PRO-1043; GLU-1061; ARG-1101; SER-1104; MET-1113; SER-1270 AND LYS-1293;
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.