Sequence information
Variant position: 194 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 382 The length of the canonical sequence.
Location on the sequence:
WYIYGFSLSAVYTCKRDPCP
H QVDCFLSRPTEKTIFIIFML
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 WYIYGFSLSAVYTCKRDPCPH QVDCFLSRPTEKTIFIIFML
Mouse WYIYGFSLSAVYTCKRDPCPH QVDCFLSRPTEKTIFIIFML
Rat WYIYGFSLSAVYTCKRDPCPH QVDCFLSRPTEKTIFIIFML
Pig WYIYGFSLSAVYTCKRDPCPH QVDCFLSRPTEKTIFIIFML
Bovine WYIYGFSLSAVYTCKRDPCPH QVDCFLSRPTEKTIFIIFML
Rabbit WYIYGFSLSAVYTCKRDPCPH QVDCFLSRPTEKTIFIIFML
Chicken WYIYGFSLSAIYTCERDPCPH RVDCFLSRPTEKTIFIVFML
Xenopus laevis WYMYGFSLSAIYTCKRDPCPH QVDCFLSRPTEKTIFIWFML
Zebrafish WYLYGFSLSAVYTCERTPCPH RVDCFLSRPTEKTIFIIFML
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
2 – 382
Gap junction alpha-1 protein
Topological domain
177 – 207
Extracellular
Disulfide bond
187 – 198
Literature citations
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.
Vitiello C.; D'Adamo P.; Gentile F.; Vingolo E.M.; Gasparini P.; Banfi S.;
Am. J. Med. Genet. A 133:58-60(2005)
Cited for: VARIANT ODDD PRO-194;
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.