UniProtKB/SwissProt variant VAR

Centriolar and ciliogenesis-associated protein HYLS1
Gene: HYLS1
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Variant information Variant position:

211
Type of variant:

LP/P [Disclaimer]
Residue change:

From Aspartate (D) to Glycine (G) at position 211 (D211G, p.Asp211Gly).
Physico-chemical properties:

Change from medium size and acidic (D) to glycine (G)
BLOSUM score:

-1
Variant description:

In HLS1; altered subcellular localization, becomes localized to nuclear structures.
Other resources:

Variant rs104894232 [ dbSNP | Ensembl ]

Sequence information Variant position:

211
Protein sequence length:

299
Location on the sequence:

RPKSFILPKLDQLSRNRGKT D RVARYFEYKRDWDSIRLPGE
Residue conservation:

Human                         RPKSFILPKL-DQLSRNRGKT----DRVARYFEYKRDWDSIRLPGE

Mouse                         RPKSFILPRL-DQLSRNRGKI----DRVARYFEYKRDWDSM

Bovine                        RPKSFILPRL-DQLSRNRGKV----DRVARYFEYKRDWDSM

Xenopus laevis                CAKSFIRPPLYSLLDQYRQRS----DPVGRYQEYKQKWDAL

Caenorhabditis elegans        RPEKEVWTR--NVLSLEPGRAPKKYDPVTRYHFYKSEWDRH

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 299	Centriolar and ciliogenesis-associated protein HYLS1

Literature citations
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
Mee L.; Honkala H.; Kopra O.; Vesa J.; Finnilae S.; Visapaeae I.; Sang T.-K.; Jackson G.R.; Salonen R.; Kestilae M.; Peltonen L.;
Hum. Mol. Genet. 14:1475-1488(2005)
Cited for: VARIANT HLS1 GLY-211; CHARACTERIZATION OF VARIANT HLS1 GLY-211; SUBCELLULAR LOCATION;

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 Q96M11: Variant p.Asp211Gly