Variant position: 295 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 RFGGNPGGFGNQGGFGNSRG GGAGLGNNQGSNMGGG--MNFGA
Mouse RFGGNPGGFGNQGGFGNSRG GGAGLGNNQGGNMGGG--MNF
Chicken RFGGNPGGFGNQGGFGNSRG GGGGLGNNQGSNMGGG--MNF
Xenopus tropicalis RFPGPS--FGNQ-GYPNSRP SSGALGNNQGGNMGGGGGMNF
Caenorhabditis elegans ---GPD--YGLPAGYRNRR- ---------------------
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
216 – 414 Interaction with UBQLN2
274 – 413 Gly-rich
292 – 292 Phosphoserine
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
Benajiba L.; Le Ber I.; Camuzat A.; Lacoste M.; Thomas-Anterion C.; Couratier P.; Legallic S.; Salachas F.; Hannequin D.; Decousus M.; Lacomblez L.; Guedj E.; Golfier V.; Camu W.; Dubois B.; Campion D.; Meininger V.; Brice A.;
Ann. Neurol. 65:470-473(2009)
Cited for: INVOLVEMENT OF VARIANT ALS10 SER-295 IN FRONTOTEMPORAL LOBAR DEGENERATION WITH MOTOR NEURON DISEASE;
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
Corrado L.; Ratti A.; Gellera C.; Buratti E.; Castellotti B.; Carlomagno Y.; Ticozzi N.; Mazzini L.; Testa L.; Taroni F.; Baralle F.E.; Silani V.; D'Alfonso S.;
Hum. Mutat. 30:688-694(2009)
Cited for: VARIANTS ALS10 SER-267; SER-287; VAL-294; SER-295; ARG-295; ASN-332; ASP-335; VAL-337; PRO-379; CYS-379; THR-382 AND LEU-393;
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.