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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12036: Variant p.Glu805Ala

Neurofilament heavy polypeptide
Gene: NEFH
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Variant information Variant position: help 805
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Alanine (A) at position 805 (E805A, p.Glu805Ala).
Physico-chemical properties: help Change from medium size and acidic (E) to small size and hydrophobic (A)
BLOSUM score: help -1
Polymorphism: help The number of repeats is shown to vary between 29 and 30.
Other resources: help


Sequence information Variant position: help 805
Protein sequence length: help 1020
Location on the sequence: help AKSPVKEEVKSPEKAKSPLK E DAKAPEKEIPKKEEVKSPVK
Residue conservation: help
Human                         AKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVK

Mouse                         VKSPAKEKAKSPE------KEEAKTSEKVAPKKEEVKSPVK

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

Sequence annotation in neighborhood: help
TypePositionsDescription
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;
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.