Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q18PE1: Variant p.Gln296Arg

Protein Dok-7
Gene: DOK7
Feedback?
Variant information Variant position: help 296
Type of variant: help LB/B
Residue change: help From Glutamine (Q) to Arginine (R) at position 296 (Q296R, p.Gln296Arg).
Physico-chemical properties: help Change from medium size and polar (Q) to large size and basic (R)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 296
Protein sequence length: help 504
Location on the sequence: help SASSRLTAWPEQSSSSASTS Q EGPRPAAAQAAGEAMVGASR
Residue conservation: help 
Human                         SASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASR

Mouse                         SASSRLTAWPEQSSSSAGTSQEGPGLVAAQGPGEAMLGASR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 504 Protein Dok-7
Region 249 – 351 Disordered
Alternative sequence 256 – 504 Missing. In isoform 4.



Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ARG-296 AND ASP-461; The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J.; Liu W.W.; Belaya K.; Maxwell S.; Oldridge M.; Lester T.; Robb S.; Beeson D.;
Hum. Mol. Genet. 21:3765-3775(2012)
Cited for: VARIANTS CMS10 LYS-3; THR-31; MET-77; CYS-109; LEU-139; GLN-158; ARG-161; ARG-166; ASP-171 AND ALA-180; VARIANTS LEU-45; VAL-99; ASN-197; HIS-261; GLN-272; ARG-296; CYS-323; LYS-382; GLN-402; SER-415; THR-440; TRP-451; ASP-461 AND THR-503; CHARACTERIZATION OF VARIANTS CMS10 LYS-3; THR-31; MET-77; CYS-109; LEU-139; GLN-158; ARG-161; ARG-166; ASP-171 AND ALA-180; CHARACTERIZATION OF VARIANT LEU-45;
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.