Variant position: 637 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 750 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 VERSQNGGEPDFHAVEPYTK KELSAVTFPDIIRNYKVMAAE
Mouse VERSQNGGEPDFHAVEPYTK KELSAVTFPDIIRNYKVMAAE
Pig VERSQNGGEPYFHAVEPYTK KELSAVTFPDIIRNYKVMAAE
Caenorhabditis elegans VCEEADGQKIPFH-LAPFTI KDLDQLSLASRIASCPQL---
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 – 750 Signal transducer and activator of transcription 1-alpha/beta
573 – 670 SH2
637 – 637 N6-methyllysine
657 – 657 ADP-ribosyl glutamic acid; by PARP14
636 – 637 KK -> AA. No effect on IFN-alpha-induced STAT1 phosphorylation and nuclear translocation.
657 – 657 E -> Q. Loss of ADP-ribosylation and increased Tyr-701 phosphorylation; when associated with Q-705.
636 – 640
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
Tsumura M.; Okada S.; Sakai H.; Yasunaga S.; Ohtsubo M.; Murata T.; Obata H.; Yasumi T.; Kong X.F.; Abhyankar A.; Heike T.; Nakahata T.; Nishikomori R.; Al-Muhsen S.; Boisson-Dupuis S.; Casanova J.L.; Alzahrani M.; Shehri M.A.; Elghazali G.; Takihara Y.; Kobayashi M.;
Hum. Mutat. 33:1377-1387(2012)
Cited for: VARIANTS IMD31A GLU-637 AND ARG-673; CHARACTERIZATION OF VARIANTS IMD31A GLU-637 AND ARG-673;
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.