Sequence information
Variant position: 206 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:
TCKRDPCPHQVDCFLSRPTE
K TIFIIFMLVVSLVSLALNII
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 TCKRDPCPHQVDCFLSRPTEK TIFIIFMLVVSLVSLALNII
Mouse TCKRDPCPHQVDCFLSRPTEK TIFIIFMLVVSLVSLALNII
Rat TCKRDPCPHQVDCFLSRPTEK TIFIIFMLVVSLVSLALNII
Pig TCKRDPCPHQVDCFLSRPTEK TIFIIFMLVVSLVSLALNII
Bovine TCKRDPCPHQVDCFLSRPTEK TIFIIFMLVVSLVSLALNII
Rabbit TCKRDPCPHQVDCFLSRPTEK TIFIIFMLVVSLVSLALNII
Chicken TCERDPCPHRVDCFLSRPTEK TIFIVFMLVVSLVSLALNII
Xenopus laevis TCKRDPCPHQVDCFLSRPTEK TIFIWFMLIVSIVSLALNII
Zebrafish TCERTPCPHRVDCFLSRPTEK TIFIIFMLVVSLFSLLLNII
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
Helix
205 – 232
Literature citations
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
Brice G.; Ostergaard P.; Jeffery S.; Gordon K.; Mortimer P.S.; Mansour S.;
Clin. Genet. 84:378-381(2013)
Cited for: VARIANT ODDD ARG-206;
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.