Sequence information
Variant position: 506 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 786 The length of the canonical sequence.
Location on the sequence:
PEQTVIFRGQRLISYAQLTG
R MPAAETTGEVCLKYTLQGKT
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 PEQTVIFRGQRLISYAQLTGR MPAAETTGEVCLKYTLQGKT
Mouse PEQLTIFRGQRLIIYAQLTGL MPQVESTGAVCLKHILQGRS
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
1 – 786
von Willebrand factor A domain-containing protein 5A
Alternative sequence
267 – 786
Missing. In isoform 4.
Alternative sequence
416 – 786
Missing. In isoform 3.
Alternative sequence
427 – 786
Missing. In isoform 2.
Literature citations
Molecular cloning and characterization of LOH11CR2A, a new gene within a refined minimal region of LOH at 11q23.
Monaco C.; Negrini M.; Sozzi G.; Veronese M.L.; Vorechovsky I.; Godwin A.K.; Croce C.M.;
Genomics 46:217-222(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 350-786 (ISOFORM 1); VARIANTS ILE-499; LYS-506; CYS-757 AND ARG-759;
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.