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UniProtKB/Swiss-Prot O94856: Variant p.Val1229Glu

Neurofascin
Gene: NFASC
Variant information

Variant position:  1229
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Valine (V) to Glutamate (E) at position 1229 (V1229E, p.Val1229Glu).
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 medium size and hydrophobic (V) to medium size and acidic (E)
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 NEDCPMD; decreased protein abundance in patient-derived cells; decreased cell surface localization; unknown pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  1229
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1347
The length of the canonical sequence.

Location on the sequence:   QADIATQGWFIGLMCAIALL  V LILLIVCFIKRSRGGKYPVR
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                         QADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVR

Mouse                         QADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVR

Rat                           QTDIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVR

Chicken                       HVDIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVR

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 25 – 1347 Neurofascin
Transmembrane 1218 – 1238 Helical
Alternative sequence 620 – 1347 Missing. In isoform 2.


Literature citations

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Monfrini E.; Straniero L.; Bonato S.; Monzio Compagnoni G.; Bordoni A.; Dilena R.; Rinchetti P.; Silipigni R.; Ronchi D.; Corti S.; Comi G.P.; Bresolin N.; Duga S.; Di Fonzo A.;
Parkinsonism Relat. Disord. 63:66-72(2019)
Cited for: INVOLVEMENT IN NEDCPMD; VARIANT NEDCPMD GLU-1229; CHARACTERIZATION OF VARIANT NEDCPMD GLU-1229; SUBCELLULAR LOCATION;

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.