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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96M11: Variant p.Asp211Gly

Centriolar and ciliogenesis-associated protein HYLS1
Gene: HYLS1
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Variant information Variant position: help 211
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Glycine (G) at position 211 (D211G, p.Asp211Gly).
Physico-chemical properties: help Change from medium size and acidic (D) to glycine (G)
BLOSUM score: help -1
Variant description: help In HLS1; altered subcellular localization, becomes localized to nuclear structures.
Other resources: help


Sequence information Variant position: help 211
Protein sequence length: help 299
Location on the sequence: help RPKSFILPKLDQLSRNRGKT D RVARYFEYKRDWDSIRLPGE
Residue conservation: help
Human                         RPKSFILPKL-DQLSRNRGKT----DRVARYFEYKRDWDSIRLPGE

Mouse                         RPKSFILPRL-DQLSRNRGKI----DRVARYFEYKRDWDSM

Bovine                        RPKSFILPRL-DQLSRNRGKV----DRVARYFEYKRDWDSM

Xenopus laevis                CAKSFIRPPLYSLLDQYRQRS----DPVGRYQEYKQKWDAL

Caenorhabditis elegans        RPEKEVWTR--NVLSLEPGRAPKKYDPVTRYHFYKSEWDRH

Sequence annotation in neighborhood: help
TypePositionsDescription
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.