UniProtKB/SwissProt variant VAR

Protein unc-45 homolog B
Gene: UNC45B
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Variant information Variant position:

805
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Tryptophan (W) at position 805 (R805W, p.Arg805Trp).
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score:

-3
Variant description:

In CTRCT43.
Other resources:

Variant rs370424081 [ dbSNP | Ensembl ]

Sequence information Variant position:

805
Protein sequence length:

931
Location on the sequence:

MCNMVLHKEVQERFLADGND R LKLVVLLCGEDDDKVQNAAA
Residue conservation:

Human                         MCNMVLHKEVQERFLADGNDRLKLVVLLCGEDDD-KVQNAAA

Mouse                         MCNMVLNKEVQERFLADGNDRLKLVVLLCGEDDH-KLQNAA

Xenopus laevis                MCNLAVNKEVKERFTAEGNDRLKLIVLLCGEDEEVKLQRAA

Xenopus tropicalis            MCNLALNKEVKERFMAEGNDRLKLIILLCGEEDEVKLQRAA

Zebrafish                     MCNLVCCKEVQDRYLEDGNDKLKLLVLLCGEDEE-KLQRAA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 931	Protein unc-45 homolog B

Literature citations
The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.
Hansen L.; Comyn S.; Mang Y.; Lind-Thomsen A.; Myhre L.; Jean F.; Eiberg H.; Tommerup N.; Rosenberg T.; Pilgrim D.;
Eur. J. Hum. Genet. 22:1290-1297(2014)
Cited for: INVOLVEMENT IN CTRCT43; VARIANT CTRCT43 TRP-805; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE;

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 Q8IWX7: Variant p.Arg805Trp