Sequence information
Variant position: 712 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 909 The length of the canonical sequence.
Location on the sequence:
FGGSTDSGPIRQADNQGLTI
G ILVTILCLLAAGFVVYLKRK
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 FGGSTDSGPIRQADNQGLTIG ILVTILCLLAAGFVVYLKRK
Mouse FGGSTDSGPIRQADNQGLTVG ILVSILCLLAAGFVVYLKRK
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
208 – 909
Disintegrin and metalloproteinase domain-containing protein 12
Transmembrane
709 – 729
Helical
Alternative sequence
705 – 740
DNQGLTIGILVTILCLLAAGFVVYLKRKTLIRLLFT -> GKEARQEAAESNRERGQGQEPVGSQEHASTASLTLI. In isoform 4.
Alternative sequence
705 – 738
DNQGLTIGILVTILCLLAAGFVVYLKRKTLIRLL -> EARQEAAESNRERGQGQEPVGSQEHASTASLTLI. In isoform 2 and isoform 3.
Literature citations
Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma.
Wei X.; Moncada-Pazos A.; Cal S.; Soria-Valles C.; Gartner J.; Rudloff U.; Lin J.C.; Rosenberg S.A.; Lopez-Otin C.; Samuels Y.;
Hum. Mutat. 32:E2148-E2175(2011)
Cited for: VARIANTS GLU-712 AND SER-893;
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.