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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48449: Variant p.Leu102Val

Lanosterol synthase
Gene: LSS
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Variant information Variant position: help 102
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Valine (V) at position 102 (L102V, p.Leu102Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In HYPT14; the protein is present in the ER but also mislocalized to the cytoplasm.


Sequence information Variant position: help 102
Protein sequence length: help 732
Location on the sequence: help TFYVGLQAEDGHWTGDYGGP L FLLPGLLITCHVARIPLPAG
Residue conservation: help 
Human                         TFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLPAG

Mouse                         TFYAKLQAEDGHWAGDYGGPLFLLPGLLITCHISHISLPAG

Rat                           TFYAKLQAEDGHWAGDYGGPLFLLPGLLITCHIAHIPLPAG

Bovine                        TFYAALQTEDGHWAGDYGGPLFLLPGLLITCHVANIPLPAG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 732 Lanosterol synthase
Repeat 77 – 121 PFTB 1
Beta strand 101 – 103



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.