Sequence information
Variant position: 86 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:
YDKSFPISHVRFWVLQIIFV
S VPTLLYLAHVFYVMRKEEKL
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 YDKSFPISHVRFWVLQIIFVS VPTLLYLAHVFYVMRKEEKL
Mouse YDKSFPISHVRFWVLQIIFVS VPTLLYLAHVFYVMRKEEKL
Rat YDKSFPISHVRFWVLQIIFVS VPTLLYLAHVFYVMRKEEKL
Pig YDKSFPISHVRFWVLQIIFVS VPTLLYLAHVFYVMRKEEKL
Bovine YDKSFPISHVRFWVLQIIFVS VPTLLYLAHVFYVMRKEEKL
Rabbit YDKSFPISHVRFWVLQIIFVS VPTLLYLAHVFYVMRKEEKL
Chicken YDKSFPISHVRFWVLQIIFVS VPTLLYLAHVFYVMRKEEKL
Xenopus laevis YDKSFPISHVRFWVLQIIFVS TPTLLYLAHVFYLMRKEEKL
Zebrafish YDKSFPISHVRFWVLQIIFVS TPTLLYLAHVFYLMRKEEKL
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
Transmembrane
77 – 97
Helical
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.