Sequence information
Variant position: 220 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:
LSRPTEKTIFIIFMLVVSLV
S LALNIIELFYVFFKGVKDRV
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 LSRPTEKTIFIIFMLVVSLVS LALNIIELFYVFFKGVKDRV
Mouse LSRPTEKTIFIIFMLVVSLVS LALNIIELFYVFFKGVKDRV
Rat LSRPTEKTIFIIFMLVVSLVS LALNIIELFYVFFKGVKDRV
Pig LSRPTEKTIFIIFMLVVSLVS LALNIIELFYAFFKGVKDRV
Bovine LSRPTEKTIFIIFMLVVSLVS LALNIIELFYVFFKGVKDRV
Rabbit LSRPTEKTIFIIFMLVVSLVS LALNIIELFYVFFKGVKDRV
Chicken LSRPTEKTIFIVFMLVVSLVS LALNIIELFYVFFKGVKDRV
Xenopus laevis LSRPTEKTIFIWFMLIVSIVS LALNIIELFYVTYKSIKDGI
Zebrafish LSRPTEKTIFIIFMLVVSLFS LLLNIIELFYVLFKRIKDRV
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
208 – 228
Helical
Cross
237 – 237
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Helix
205 – 232
Literature citations
Clinical and genetic variability of oculodentodigital dysplasia.
Wiest T.; Herrmann O.; Stoegbauer F.; Grasshoff U.; Enders H.; Koch M.J.; Grond-Ginsbach C.; Schwaninger M.;
Clin. Genet. 70:71-72(2006)
Cited for: VARIANTS ODDD GLU-96; PRO-113; ASN-154 AND TYR-220;
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.