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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y215: Variant p.Arg410Gln

Acetylcholinesterase collagenic tail peptide
Gene: COLQ
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Variant information Variant position: help 410
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 410 (R410Q, p.Arg410Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In CMS5.
Other resources: help


Sequence information Variant position: help 410
Protein sequence length: help 455
Location on the sequence: help NSDVGDDCIRCHRAYCGDGH R HEGVEDCDGSDFGYLTCETY
Residue conservation: help
Human                         NSDVGDDCIRCHRAYCGDGHRHEGVEDCDGSDFGYLTCETY

Mouse                         NPDVSDGCIDCHRAYCGDGYRHQGVEDCDGSDFGYLTCETY

Rat                           NPDVSDGCIDCHRAYCGDGYRHRGVEDCDGSDFGYLKCETY

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 23 – 455 Acetylcholinesterase collagenic tail peptide
Alternative sequence 282 – 455 Missing. In isoform VII.
Alternative sequence 292 – 455 Missing. In isoform VI.
Alternative sequence 330 – 455 Missing. In isoform VIII.



Literature citations
The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
Ohno K.; Engel A.G.; Brengman J.M.; Shen X.-M.; Heidenreich F.; Vincent A.; Milone M.; Tan E.; Demirci M.; Walsh P.; Nakano S.; Akiguchi I.;
Ann. Neurol. 47:162-170(2000)
Cited for: VARIANTS CMS5 GLN-59; GLU-342; GLN-410 AND TYR-444;
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.