Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07196: Variant p.Glu396Lys

Neurofilament light polypeptide
Gene: NEFL
Feedback?
Variant information Variant position: help 396 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Glutamate (E) to Lysine (K) at position 396 (E396K, p.Glu396Lys). 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: help Change from medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In CMTDIG and CMT2E. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 396 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 543 The length of the canonical sequence.
Location on the sequence: help LNVKMALDIEIAAYRKLLEG E ETRLSFTSVGSITSGYSQSS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSS

Mouse                         LNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSS

Rat                           LNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSS

Pig                           LNVKMALDIEIAAYRKLLEGEETRLSFTSVGSLTTGYSQSS

Bovine                        LNVKMALDIEIAAYRKLLEGEETRLSFTSVGSLTTGYTQSS

Xenopus laevis                LNVKMALDIEIAAYRKLLEGEETRLSFSGVGAITSGYTQSA

Xenopus tropicalis            LNVKMALDIEIAAYRKLLEGEETRLSFSGVGAITSGYTQSA
Sequence annotation in neighborhood: help 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
Domain 90 – 400 IF rod
Region 281 – 396 Coil 2B



Literature citations
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Choi B.-O.; Lee M.S.; Shin S.H.; Hwang J.H.; Choi K.-G.; Kim W.-K.; Sunwoo I.N.; Kim N.K.; Chung K.W.;
Hum. Mutat. 24:185-186(2004)
Cited for: VARIANT CMT2E PRO-336; VARIANT CMT1F LYS-396; The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Zuechner S.; Vorgerd M.; Sindern E.; Schroeder J.M.;
Neuromuscul. Disord. 14:147-157(2004)
Cited for: VARIANT CMTDIG LYS-396; 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; The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Lin K.P.; Soong B.W.; Yang C.C.; Huang L.W.; Chang M.H.; Lee I.H.; Antonellis A.; Lee Y.C.;
PLoS ONE 6:E29393-E29393(2011)
Cited for: VARIANTS CMT2E ARG-8; SER-22 AND LYS-396; NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
Berciano J.; Garcia A.; Peeters K.; Gallardo E.; De Vriendt E.; Pelayo-Negro A.L.; Infante J.; Jordanova A.;
J. Neurol. 262:1289-1300(2015)
Cited for: VARIANT CMTDIG LYS-396; INVOLVEMENT IN CMTDIG;
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.