UniProtKB/Swiss-Prot P07196: Variant p.Asp468Asn

Neurofilament light polypeptide
Gene: NEFL
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Variant information Variant position:

468 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 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.

Variant rs57153321 [ dbSNP | Ensembl ]

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                QEEQLDIEETIESSRAEEAKAEAPEEEEEEAAEEEGE----

Xenopus tropicalis            QEEQLDIEETIESSRAEEAKAEAPEEEEEEAGEEEAE----

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	2 – 543	Neurofilament light polypeptide
Region	397 – 543	Tail
Region	444 – 543	Tail, subdomain B (acidic)
Region	462 – 543	Disordered
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.