UniProtKB/SwissProt variant VAR

WD repeat and FYVE domain-containing protein 3
Gene: WDFY3
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Variant information Variant position:

2637
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Tryptophan (W) at position 2637 (R2637W, p.Arg2637Trp).
Physico-chemical properties:

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

-3
Variant description:

In MCPH18; increased cellular DVL3 protein levels as compared to the wild-type protein and loss of attenuation of Wnt signaling; when expressed in Drosophila, causes brain anomalies.
Other resources:

Variant rs1553924800 [ dbSNP | Ensembl ]

Sequence information Variant position:

2637
Protein sequence length:

3526
Location on the sequence:

VHKRRYLLQPIAVEVFSGDG R NYLLAFQKGIRNKVYQRFLA
Residue conservation:

Human                         VHKRRYLLQPIAVEVFSGDGRNYLLAFQKGIRNKVYQRFLA

Mouse                         VHKRRYLLQPIAVEVFSGDGRNYLLAFQKGIRNKVYQRFLA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 3526	WD repeat and FYVE domain-containing protein 3
Domain	2531 – 2656	BEACH-type PH
Region	2285 – 2981	Sufficient for localization to p62 bodies/ALIS
Region	2586 – 3526	Interaction with SQSTM1

Literature citations
ALFY-controlled DVL3 autophagy regulates Wnt signaling, determining human brain size.
Kadir R.; Harel T.; Markus B.; Perez Y.; Bakhrat A.; Cohen I.; Volodarsky M.; Feintsein-Linial M.; Chervinski E.; Zlotogora J.; Sivan S.; Birnbaum R.Y.; Abdu U.; Shalev S.; Birk O.S.;
PLoS Genet. 12:E1005919-E1005919(2016)
Cited for: VARIANT MCPH18 TRP-2637; CHARACTERIZATION OF VARIANT MCPH18 TRP-2637; FUNCTION;

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 Q8IZQ1: Variant p.Arg2637Trp