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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48449: Variant p.Asn209Tyr

Lanosterol synthase
Gene: LSS
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Variant information Variant position: help 209
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Tyrosine (Y) at position 209 (N209Y, p.Asn209Tyr).
Physico-chemical properties: help Change from medium size and polar (N) to large size and aromatic (Y)
BLOSUM score: help -2
Variant description: help In APMR4; changed localization; the protein is present in the ER but is also mislocalized to the cytoplasm.
Other resources: help


Sequence information Variant position: help 209
Protein sequence length: help 732
Location on the sequence: help IPSWGKFWLAVLNVYSWEGL N TLFPEMWLFPDWAPAHPSTL
Residue conservation: help 
Human                         IPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWAPAHPSTL

Mouse                         IPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPEWVPAHPSTL

Rat                           IPSWGKFWLAVLNVYSWEGINTLFPEMWLLPEWFPAHPSTL

Bovine                        IPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWMPAHPSTI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 732 Lanosterol synthase



Literature citations
Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex.
Romano M.T.; Tafazzoli A.; Mattern M.; Sivalingam S.; Wolf S.; Rupp A.; Thiele H.; Altmueller J.; Nuernberg P.; Ellwanger J.; Gambon R.; Baumer A.; Kohlschmidt N.; Metze D.; Holdenrieder S.; Paus R.; Luetjohann D.; Frank J.; Geyer M.; Bertolini M.; Kokordelis P.; Betz R.C.;
Am. J. Hum. Genet. 103:777-785(2018)
Cited for: TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INVOLVEMENT IN HYPT14; INVOLVEMENT IN APMR4; VARIANTS HYPT14 VAL-102; PRO-248 AND SER-391; VARIANTS APMR4 141-TRP--PRO-732 DEL AND TYR-209; CHARACTERIZATION OF VARIANTS HYPT14 VAL-102; PRO-248 AND SER-391; CHARACTERIZATION OF VARIANTS APMR4 141-TRP--PRO-732 DEL AND TYR-209;
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.