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UniProtKB/Swiss-Prot P12036: Variant p.Glu811Ala

Neurofilament heavy polypeptide
Gene: NEFH
Variant information

Variant position:  811
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 Glutamate (E) to Alanine (A) at position 811 (E811A, p.Glu811Ala).
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 acidic (E) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Polymorphism:  The number of repeats is shown to vary between 29 and 30.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  811
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1026
The length of the canonical sequence.

Location on the sequence:   AKSPVKEEVKSPEKAKSPLK  E DAKAPEKEIPKKEEVKSPVK
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                         AKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVK

Mouse                         VKSPAKEKAKSPEK------EEAKTSEKVAPKKEEVKSPVK

Rat                           VKSPAKEEAKSPEK------EETRT-EKVAPKKEEVKSPV-

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 – 1026 Neurofilament heavy polypeptide
Region 414 – 1026 Tail
Region 456 – 1026 Disordered
Region 525 – 832 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]-[AEVK]
Compositional bias 499 – 1026 Basic and acidic residues
Modified residue 793 – 793 Phosphoserine
Modified residue 801 – 801 Phosphoserine
Modified residue 828 – 828 Phosphoserine
Alternative sequence 750 – 812 Missing. In isoform 2.


Literature citations

The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it.
Lees J.F.; Shneidman P.S.; Skuntz S.F.; Carden M.J.; Lazzarini R.A.;
EMBO J. 7:1947-1955(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-811;

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.