UniProtKB/SwissProt variant VAR

Neurofilament heavy polypeptide
Gene: NEFH
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Variant information Variant position:

805
Type of variant:

LB/B
Residue change:

From Glutamate (E) to Alanine (A) at position 805 (E805A, p.Glu805Ala).
Physico-chemical properties:

Change from medium size and acidic (E) to small size and hydrophobic (A)
BLOSUM score:

-1
Polymorphism:

The number of repeats is shown to vary between 29 and 30.
Other resources:

Variant rs165602 [ dbSNP | Ensembl ]

Sequence information Variant position:

805
Protein sequence length:

1020
Location on the sequence:

AKSPVKEEVKSPEKAKSPLK E DAKAPEKEIPKKEEVKSPVK
Residue conservation:

Human                         AKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVK

Mouse                         VKSPAKEKAKSPE------KEEAKTSEKVAPKKEEVKSPVK

Rat                           VKSPAKEEAKSPE------KEETRT-EKVAPKKEEVKSPV-

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1020	Neurofilament heavy polypeptide
Region	414 – 1020	Tail
Region	456 – 1020	Disordered
Region	525 – 826	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]-[AEVK]
Compositional bias	511 – 1020	Basic and acidic residues
Modified residue	787 – 787	Phosphoserine
Modified residue	795 – 795	Phosphoserine
Modified residue	822 – 822	Phosphoserine
Alternative sequence	744 – 806	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-805;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12036: Variant p.Glu805Ala