UniProtKB/Swiss-Prot P12036: Variant p.Glu811Ala

Neurofilament heavy polypeptide
Gene: NEFH
Feedback?

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.

Variant rs165602 [ dbSNP | Ensembl ]

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                         VKSPAKEKAKSPE------KEEAKTSEKVAPKKEEVKSPVK

Rat                           VKSPAKEEAKSPE------KEETRT-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.

Type	Positions	Description
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.