Sequence information
Variant position: 365 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 524 The length of the canonical sequence.
Location on the sequence:
HLLDFLGMIFLTMIWAICPR
D SLALLCQWIQSKLQEYMFNR
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 HLLDFLGMIFLTMIWAICPRD SLALLCQWIQSKLQEYMFNR
Mouse HLLDFLGMIFLTMIWAICPRD SLAVLGQWIQSKLQEYMFDR
Rat HLLDFLGMIFLTMIWAICPRD SLAVLGQWIQSKLQEYMFDR
Bovine HLLDFLGLIFLTTIWAICPRD SLALLGQWIQSKLQEFLFDR
Zebrafish HVVELLSLVLLTAIWAVCPRD SLAALGHWIQGKLVQFLFDR
Baker's yeast PIYSLLGLVLYTV-------- ---TGAHAINNILLDGFLRM
Fission yeast RAVS--CIVFLAA-------A SLDLSGQ-LSHFLLNFGLLL
Literature citations
Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.
Daoud H.; Valdmanis P.N.; Gros-Louis F.; Belzil V.; Spiegelman D.; Henrion E.; Diallo O.; Desjarlais A.; Gauthier J.; Camu W.; Dion P.A.; Rouleau G.A.;
Arch. Neurol. 68:587-593(2011)
Cited for: VARIANTS TYR-69; LEU-117; GLY-272; LEU-329 AND TYR-365;
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.