Sequence information
Variant position: 106 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:
SVPTLLYLAHVFYVMRKEEK
L NKKEEELKVAQTDGVNVDMH
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 SVPTLLYLAHVFYVMRKEEKL NKKEEELKVA-QTDGVNVDMH
Mouse SVPTLLYLAHVFYVMRKEEKL NKKEEELKVA-QTDGVNVEM
Rat SVPTLLYLAHVFYVMRKEEKL NKKEEELKVA-QTDGVNVEM
Pig SVPTLLYLAHVFYVMRKEEKL NKKEEELKVA-QTDGVNVEM
Bovine SVPTLLYLAHVFYVMRKEEKL NKKEEELKVVAQTDGANVDM
Rabbit SVPTLLYLAHVFYVMRKEEKL NKKEEELKVA-QTDGVNVEM
Chicken SVPTLLYLAHVFYVMRKEEKL NKREEELKVV-QNDGVNVDM
Xenopus laevis STPTLLYLAHVFYLMRKEEKL NRKEEELKMV-QNEGGNVDM
Zebrafish STPTLLYLAHVFYLMRKEEKL NRKEEELKAV-QNDGGDVEL
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
98 – 155
Cytoplasmic
Disulfide bond
54 – 192
Literature citations
Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.
Jamsheer A.; Sowinska-Seidler A.; Socha M.; Stembalska A.; Kiraly-Borri C.; Latos-Bielenska A.;
Gene 539:157-161(2014)
Cited for: VARIANTS ODDD HIS-47; TYR-86 AND ARG-106;
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.