Variant position: 1246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1855 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 RKALSEKSAPEVTAPGAPAY RVLMEQLTSVSEELDVRKEEV
Mouse RKALSEKSAPEVTAPGAPAY RVLMEQLTSVSEELDVRKEEV
Rat RKALSEKSAPEVNAPGAPAY RVLMEQLTAVSEELDVRKEEV
Chicken QKALTETRAPEVTAPGAPAY RVLLDQLTSVSEELEVRKEEV
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
2 – 1855 Unconventional myosin-Va
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.
Pastural E.; Barrat F.J.; Dufourcq-Lagelouse R.; Certain S.; Sanal O.; Jabado N.; Seger R.; Griscelli C.; Fischer A.; de Saint Basile G.;
Nat. Genet. 16:289-292(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT CYS-1246;
Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.
Lambert J.; Naeyaert J.-M.; De Paepe A.; Van Coster R.; Ferster A.; Song M.; Messiaen L.;
J. Invest. Dermatol. 114:731-733(2000)
Cited for: VARIANT CYS-1246;
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.