UniProtKB/SwissProt variant VAR

43 kDa receptor-associated protein of the synapse
Gene: RAPSN
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Variant information Variant position:

164
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Cysteine (C) at position 164 (R164C, p.Arg164Cys).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (C)
BLOSUM score:

-3
Variant description:

In CMS11; reduced coclustering with acetylcholine receptor.
Other resources:

Variant rs104894294 [ dbSNP | Ensembl ]

Sequence information Variant position:

164
Protein sequence length:

412
Location on the sequence:

ESFEKALRYAHNNDDAMLEC R VCCSLGSFYAQVKDYEKALF
Residue conservation:

Human                         ESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYEKALF

Mouse                         ESFEKALRYAHNNDDTMLECRVCCSLGSFYAQVKDYEKALF

Chicken                       ECFEKALRYAHNNDDKMLECRVCCSLGNFYAQIKDYEKALF

Caenorhabditis elegans        ESFESAMNVANETSDRLLELQICVGLGSLFTLLRDITKALI

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 412	43 kDa receptor-associated protein of the synapse
Repeat	163 – 196	TPR 4

Literature citations
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
Mueller J.S.; Baumeister S.K.; Rasic V.M.; Krause S.; Todorovic S.; Kugler K.; Mueller-Felber W.; Abicht A.; Lochmueller H.;
Neurology 67:1159-1164(2006)
Cited for: VARIANTS CMS11 CYS-164 AND PRO-283; CHARACTERIZATION OF VARIANTS CMS11 CYS-164 AND PRO-283;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13702: Variant p.Arg164Cys