Variant position: 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 414 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 GRFGGNPGGFGNQGGFGNSR GGGAGLGNNQGSNMGGG--MNFG
Mouse GRFGGNPGGFGNQGGFGNSR GGGAGLGNNQGGNMGGG--MN
Chicken GRFGGNPGGFGNQGGFGNSR GGGGGLGNNQGSNMGGG--MN
Xenopus tropicalis GRFPGPS--FGNQ-GYPNSR PSSGALGNNQGGNMGGGGGMN
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
1 – 414 TAR DNA-binding protein 43
274 – 413 Gly-rich
292 – 292 Phosphoserine
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
Sreedharan J.; Blair I.P.; Tripathi V.B.; Hu X.; Vance C.; Rogelj B.; Ackerley S.; Durnall J.C.; Williams K.L.; Buratti E.; Baralle F.; de Belleroche J.; Mitchell J.D.; Leigh P.N.; Al-Chalabi A.; Miller C.C.; Nicholson G.; Shaw C.E.;
Cited for: VARIANTS ALS10 ALA-294; LYS-331 AND VAL-337; VARIANT VAL-90; CHARACTERIZATION OF VARIANTS ALS10 LYS-331 AND VAL-337;
Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis.
Luquin N.; Yu B.; Saunderson R.B.; Trent R.J.; Pamphlett R.;
Neuromuscul. Disord. 19:696-700(2009)
Cited for: VARIANT ALS10 ALA-294;
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.