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UniProtKB/Swiss-Prot P48681: Variant p.Pro1275Leu

Nestin
Gene: NES
Variant information

Variant position:  1275
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Proline (P) to Leucine (L) at position 1275 (P1275L, p.Pro1275Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

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



Sequence information

Variant position:  1275
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1621
The length of the canonical sequence.

Location on the sequence:   ALGKVESEQEELGSGEIPEG  P QEEGEESREESEEDELGETL
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                         ALGKVESEQEELGSGEIPEGPQEEGEESREESEEDELGETL

Mouse                         ALGRVEDE-PEFGRGEIPEGLQ-DWEEGREDSEADELGETL

Rat                           ALERVENE-PEFGLGEIPEGLQ-DWEEGREESEADDLGETL

Zebrafish                     LAAATPNEQPLTFTNEVSKA---DYVSDNNDVPEEVLSEE-

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 – 1621 Nestin
Region 314 – 1621 Tail
Region 895 – 1593 Disordered
Compositional bias 1274 – 1294 Acidic residues
Modified residue 1261 – 1261 Phosphoserine
Modified residue 1282 – 1282 Phosphoserine
Modified residue 1286 – 1286 Phosphoserine


Literature citations

Characterization of the human nestin gene reveals a close evolutionary relationship to neurofilaments.
Dahlstrand J.; McKay R.D.G.; Zimmerman L.B.; Lendahl U.;
J. Cell Sci. 103:589-597(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASN-1016; LEU-1101 AND LEU-1275;

A quantitative atlas of mitotic phosphorylation.
Dephoure N.; Zhou C.; Villen J.; Beausoleil S.A.; Bakalarski C.E.; Elledge S.J.; Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-311; THR-315; SER-325; THR-388; SER-398; SER-471; SER-548; SER-564; SER-578; SER-588; SER-746; SER-768; THR-851; SER-905 AND SER-1418; VARIANT [LARGE SCALE ANALYSIS] LEU-1275; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
Rigbolt K.T.; Prokhorova T.A.; Akimov V.; Henningsen J.; Johansen P.T.; Kratchmarova I.; Kassem M.; Mann M.; Olsen J.V.; Blagoev B.;
Sci. Signal. 4:RS3-RS3(2011)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-325; SER-355; SER-358; SER-548; SER-578; SER-680; SER-746; SER-768; SER-790; SER-820; SER-831; SER-894; SER-905; SER-913; SER-934; SER-1261; SER-1282; SER-1286; SER-1347; SER-1418; SER-1452; SER-1496; SER-1498; SER-1577; SER-1617 AND SER-1618; VARIANT [LARGE SCALE ANALYSIS] LEU-1275; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.