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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9ULV0: Variant p.Cys10Gly

Unconventional myosin-Vb
Gene: MYO5B
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Variant information Variant position: help 10
Type of variant: help LB/B
Residue change: help From Cysteine (C) to Glycine (G) at position 10 (C10G, p.Cys10Gly).
Physico-chemical properties: help Change from medium size and polar (C) to glycine (G)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 10
Protein sequence length: help 1848
Location on the sequence: help MSVGELYSQ C TRVWIPDPDEVWRSAELTKD
Residue conservation: help
Human                         MSVGELYSQCTRVWIPDPDEVWRSAELTKD

Mouse                         MSYSELYTRYTRVWIPDPDEVWRSAELTKD

Rat                           MTYSELYSRYTRVWIPDPDEVWRSAELTKD

Sequence annotation in neighborhood: help
TypePositionsDescription
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;
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.