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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15118: Variant p.Thr511Met

NPC intracellular cholesterol transporter 1
Gene: NPC1
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Variant information Variant position: help 511
Type of variant: help LB/B
Residue change: help From Threonine (T) to Methionine (M) at position 511 (T511M, p.Thr511Met).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (M)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 511
Protein sequence length: help 1278
Location on the sequence: help SHSVLDHKKGDDFFVYADYH T HFLYCVRAPASLNDTSLLHD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 23 – 1278 NPC intracellular cholesterol transporter 1
Topological domain 372 – 620 Lumenal
Glycosylation 524 – 524 N-linked (GlcNAc...) asparagine
Mutagenesis 503 – 503 F -> AG. Loss of interaction with ebolavirus glycoprotein.
Mutagenesis 504 – 504 F -> AG. Loss of interaction with ebolavirus glycoprotein.
Mutagenesis 506 – 506 Y -> A. Loss of interaction with ebolavirus glycoprotein.
Helix 509 – 516



Literature citations
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
Millat G.; Baielo N.; Molinero S.; Rodriguez C.; Chikh K.; Vanier M.T.;
Mol. Genet. Metab. 86:220-232(2005)
Cited for: VARIANTS NPC1 SER-166; TYR-177; PRO-404; LEU-537; LEU-543; LEU-615; ARG-631; LEU-763; CYS-825; LEU-862; LEU-865; CYS-871; TYR-917; GLN-934; LEU-940; MET-950; SER-968; ALA-992; ARG-992; TRP-992; ALA-1007; MET-1036; THR-1061; VAL-1062; ASN-1097; VAL-1174; HIS-1186; VAL-1216 AND ARG-1240; VARIANT MET-511;
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.