Variant position: 90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 398 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human YRTDCDSSTTSLCSFPVANV SLTKGGRDRVLMYGQPYRVTL
Mouse YRTDCDSSTASLCSFPVANV SLAKSGRDRVLMYGQPYRVTL
Rat YRTDCDSSTASLCSFPVANV SLTKSGRDRVLMYGQPYRVTL
Bovine YRTDCESSTSLLCSFPVANV TLAKGGRDRVLMYGQPYRVTL
Drosophila FKTCLETSTP--CTFPHAHV SLTK--KQQLLMVGQAYKVIV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 398 Seipin
48 – 242 Lumenal
88 – 88 N-linked (GlcNAc...)
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Windpassinger C.; Auer-Grumbach M.; Irobi J.; Patel H.; Petek E.; Hoerl G.; Malli R.; Reed J.A.; Dierick I.; Verpoorten N.; Warner T.T.; Proukakis C.; Van den Bergh P.; Verellen C.; Van Maldergem L.; Merlini L.; De Jonghe P.; Timmerman V.; Crosby A.H.; Wagner K.;
Nat. Genet. 36:271-276(2004)
Cited for: SUBCELLULAR LOCATION; GLYCOSYLATION AT ASN-88; VARIANTS SPG17 AND HMN5A SER-88 AND LEU-90;
Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation.
Tian Y.; Bi J.; Shui G.; Liu Z.; Xiang Y.; Liu Y.; Wenk M.R.; Yang H.; Huang X.;
PLoS Genet. 7:E1001364-E1001364(2011)
Cited for: FUNCTION; VARIANT LEU-90;
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.