Variant position: 302 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 754 The length of the canonical sequence.
Location on the sequence:
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 RKDFDHVVLLSGKWLYSHVQ GISYPGGMCLPYYSTSIIKDL
Mouse RKDFDHVILLSGKWLYTSMQ GIAYPGGICQILRSCSVVKDL
Rat RKDFDHVILLSGKWLYTSMQ GIAYPGGICQTLRSCSVVKDL
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
177 – 754 Disintegrin and metalloproteinase domain-containing protein 7
19 – 668 Extracellular
199 – 394 Peptidase M12B
211 – 754 Missing. In isoform 2.
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: TISSUE SPECIFICITY; INVOLVEMENT IN CUTANEOUS MELANOMA; VARIANTS SER-14; CYS-31; SER-36; TYR-106; PRO-173; ALA-180; TYR-243; GLU-302; ILE-359; GLU-533; LEU-593; LYS-639 AND ASN-703; CHARACTERIZATION OF VARIANTS TYR-243; ILE-359; LYS-639 AND ASN-703;
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.