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UniProtKB/Swiss-Prot Q96G97: Variant p.Ser90Leu

Seipin
Gene: BSCL2
Variant information

Variant position:  90
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Leucine (L) at position 90 (S90L, p.Ser90Leu).
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:  Change from small size and polar (S) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  In SPG17 and HMN5A; also found in patients with hereditary motor and sensory neuropathy type 2; does not affect the function in lipid storage.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   YRTDCDSSTTSLCSFPVANV  S LTKGGRDRVLMYGQPYRVTL
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                         YRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTL

Mouse                         YRTDCDSSTASLCSFPVANVSLAKSGRDRVLMYGQPYRVTL

Rat                           YRTDCDSSTASLCSFPVANVSLTKSGRDRVLMYGQPYRVTL

Bovine                        YRTDCESSTSLLCSFPVANVTLAKGGRDRVLMYGQPYRVTL

Drosophila                    FKTCLETSTP--CTFPHAHVSLTK--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.

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 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;

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 HMN5A SER-88; VARIANT SPG17 LEU-90;

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
Klein C.J.; Middha S.; Duan X.; Wu Y.; Litchy W.J.; Gu W.; Dyck P.J.; Gavrilova R.H.; Smith D.I.; Kocher J.P.; Dyck P.J.;
J. Neurol. Neurosurg. Psych. 85:1265-1272(2014)
Cited for: 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.