Variant position: 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 243 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 VTTNLKLGNPTDRNVCFKVK TTAPRRYCVRPNSGIIDAGAS
Mouse VTTNLKLGNPTDRNVCFKVK TTVPRRYCVRPNSGVIDAGAS
Rat VTTNLKLGNPTDRNVCFKVK TTAPRRYCVRPNSGVIDAGAS
Pig VTTNLKLGNPTDRNVCFKVK TTAPRRYCVRPNSGIIDAGAS
Bovine VTTNLKLGNPTDRNVCFKVK TTAPRRYCVRPNSGIIDAGAS
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 – 243 Vesicle-associated membrane protein-associated protein B/C
2 – 222 Cytoplasmic
7 – 124 MSP
40 – 47
Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.
Chen H.J.; Anagnostou G.; Chai A.; Withers J.; Morris A.; Adhikaree J.; Pennetta G.; de Belleroche J.S.;
J. Biol. Chem. 285:40266-40281(2010)
Cited for: FUNCTION IN ENDOPLASMIC RETICULUM UNFOLDED PROTEIN RESPONSE; VARIANT ALS8 ILE-46; CHARACTERIZATION OF VARIANTS ALS8 ILE-46 AND SER-56; SUBUNIT; INTERACTION WITH VAPA; VAMP1 AND VAMP2;
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.