UniProtKB/SwissProt variant VAR

Unconventional myosin-Vb
Gene: MYO5B
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Variant information Variant position:

10
Type of variant:

LB/B
Residue change:

From Cysteine (C) to Glycine (G) at position 10 (C10G, p.Cys10Gly).
Physico-chemical properties:

Change from medium size and polar (C) to glycine (G)
BLOSUM score:

-3
Other resources:

Variant rs16951438 [ dbSNP | Ensembl ]

Sequence information Variant position:

10
Protein sequence length:

1848
Location on the sequence:

MSVGELYSQ C TRVWIPDPDEVWRSAELTKD
Residue conservation:

Human                         MSVGELYSQCTRVWIPDPDEVWRSAELTKD

Mouse                         MSYSELYTRYTRVWIPDPDEVWRSAELTKD

Rat                           MTYSELYSRYTRVWIPDPDEVWRSAELTKD

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1848	Unconventional myosin-Vb
Domain	8 – 60	Myosin N-terminal SH3-like
Alternative sequence	1 – 1430	Missing. In isoform 3.
Alternative sequence	1 – 859	Missing. In isoform 2.

Literature citations
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Mueller T.; Hess M.W.; Schiefermeier N.; Pfaller K.; Ebner H.L.; Heinz-Erian P.; Ponstingl H.; Partsch J.; Roellinghoff B.; Koehler H.; Berger T.; Lenhartz H.; Schlenck B.; Houwen R.J.; Taylor C.J.; Zoller H.; Lechner S.; Goulet O.; Utermann G.; Ruemmele F.M.; Huber L.A.; Janecke A.R.;
Nat. Genet. 40:1163-1165(2008)
Cited for: VARIANTS DIAR2 GLY-108; HIS-219 AND CYS-656;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9ULV0: Variant p.Cys10Gly