Home  |  Contact

UniProtKB/Swiss-Prot P07196: Variant p.Asp468Asn

Neurofilament light polypeptide
Gene: NEFL
Chromosomal location: 8p21
Variant information

Variant position:  468
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Aspartate (D) to Asparagine (N) at position 468 (D468N, p.Asp468Asn).
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 (D) to medium size and polar (N)
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

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



Sequence information

Variant position:  468
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  543
The length of the canonical sequence.

Location on the sequence:   QEEQIEVEETIEAAKAEEAK  D EPPSEGEAEEEEKDKEEAEE
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                         QEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEEKDKE------EAEE

Mouse                         QEEQTEVEETIEATKAEEAKDEPPSEGEAEEEEKEKE----

Rat                           QEEQSEVEETIEATKAEEAKDEPPSEGEAEEEEKEKE----

Pig                           QEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEGKEKEEAEA

Bovine                        QEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEEKEKEEAEA

Xenopus laevis                QEEQLDIEETIESSRAEEAKAEAPEEEEEEAAEEEGEGG--

Xenopus tropicalis            QEEQLDIEETIESSRAEEAKAEAPEEEEEEAGEEEAEGG--

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 2 – 543 Neurofilament light polypeptide
Region 397 – 543 Tail
Region 444 – 543 Tail, subdomain B (acidic)
Modified residue 472 – 472 Phosphoserine


Literature citations

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Jordanova A.; De Jonghe P.; Boerkoel C.F.; Takashima H.; De Vriendt E.; Ceuterick C.; Martin J.-J.; Butler I.J.; Mancias P.; Papasozomenos S.C.; Terespolsky D.; Potocki L.; Brown C.W.; Shy M.; Rita D.A.; Tournev I.; Kremensky I.; Lupski J.R.; Timmerman V.;
Brain 126:590-597(2003)
Cited for: VARIANTS CMT1F ARG-8; LEU-8; GLN-8; LYS-90; SER-98 AND GLU-527 DEL; VARIANTS LYS-7 AND ASN-468;

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
Fabrizi G.M.; Cavallaro T.; Angiari C.; Cabrini I.; Taioli F.; Malerba G.; Bertolasi L.; Rizzuto N.;
Brain 130:394-403(2007)
Cited for: VARIANTS MET-213 AND ASN-468; VARIANTS CMT2E SER-22; PRO-268 AND 322-CYS--ASN-326 DEL; VARIANT CMTDIG LYS-396;

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.