Variant position: 622 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 847 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 KESPSDKKSKTDGSQKTESS TEGKEQEEKSGEDGEKDTKDD
Mouse KESPSDKKSKTD-AQKTESP AEGKEQEEKSGEDGEKDTKDD
Rat KESPSDKKSKTDGAQKTENP AEGKEQEEKSGEDGEKDTKDD
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 – 847 Matrin-3
604 – 604 Phosphoserine
606 – 606 Phosphoserine
617 – 617 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
630 – 630 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Mutations in the matrin 3 gene cause familial amyotrophic lateral sclerosis.
Johnson J.O.; Pioro E.P.; Boehringer A.; Chia R.; Feit H.; Renton A.E.; Pliner H.A.; Abramzon Y.; Marangi G.; Winborn B.J.; Gibbs J.R.; Nalls M.A.; Morgan S.; Shoai M.; Hardy J.; Pittman A.; Orrell R.W.; Malaspina A.; Sidle K.C.; Fratta P.; Harms M.B.; Baloh R.H.; Pestronk A.; Weihl C.C.; Rogaeva E.; Zinman L.; Drory V.E.; Borghero G.; Mora G.; Calvo A.; Rothstein J.D.; Drepper C.; Sendtner M.; Singleton A.B.; Taylor J.P.; Cookson M.R.; Restagno G.; Sabatelli M.; Bowser R.; Chio A.; Traynor B.J.;
Nat. Neurosci. 17:664-666(2014)
Cited for: INTERACTION WITH TARDBP; VARIANTS ALS21 CYS-85; CYS-115; SER-154 AND ALA-622; CHARACTERIZATION OF VARIANT ALS21 CYS-85;
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.