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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96G97: Variant p.Asn88Ser

Seipin
Gene: BSCL2
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Variant information Variant position: help 88 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Asparagine (N) to Serine (S) at position 88 (N88S, p.Asn88Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SPG17 and HMND13; does not affect protein subcellular location. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 88 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 398 The length of the canonical sequence.
Location on the sequence: help FYYRTDCDSSTTSLCSFPVA N VSLTKGGRDRVLMYGQPYRV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         FYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRV

Mouse                         FHYRTDCDSSTASLCSFPVANVSLAKSGRDRVLMYGQPYRV

Rat                           FYYRTDCDSSTASLCSFPVANVSLTKSGRDRVLMYGQPYRV

Bovine                        FHYRTDCESSTSLLCSFPVANVTLAKGGRDRVLMYGQPYRV

Drosophila                    MQFKTCLETSTP--CTFPHAHVSLTK--KQQLLMVGQAYKV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 398 Seipin
Topological domain 48 – 242 Lumenal
Glycosylation 88 – 88 N-linked (GlcNAc...) asparagine
Mutagenesis 70 – 70 Y -> A. Loss of oligomerization and function in lipid droplet formation; when associated with R-67; A-151; D-156; D-169 and A-175.



Literature citations
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 SER-88 AND LEU-90; VARIANT HMND13 SER-88; Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.
Ito D.; Fujisawa T.; Iida H.; Suzuki N.;
Neurobiol. Dis. 31:266-277(2008)
Cited for: TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANT SPG17 SER-88; Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Rohkamm B.; Reilly M.M.; Lochmueller H.; Schlotter-Weigel B.; Barisic N.; Schoels L.; Nicholson G.; Pareyson D.; Laura M.; Janecke A.R.; Miltenberger-Miltenyi G.; John E.; Fischer C.; Grill F.; Wakeling W.; Davis M.; Pieber T.R.; Auer-Grumbach M.;
J. Neurol. Sci. 263:100-106(2007)
Cited for: VARIANT HMND13 SER-88; VARIANT SPG17 LEU-90;
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.