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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07196: Variant p.Asn98Ser

Neurofilament light polypeptide
Gene: NEFL
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Variant information Variant position: help 98 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 Asparagine (N) to Serine (S) at position 98 (N98S, p.Asn98Ser). 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 polar (N) to small size and polar (S) 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 CMT1F and CMTDIG. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 98 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 AISNDLKSIRTQEKAQLQDL N DRFASFIERVHELEQQNKVL 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                         AISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVL

Mouse                         AISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVL

Rat                           AISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVL

Pig                           AISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVL

Bovine                        AISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVL

Xenopus laevis                AISSDLKIVRTQEKVQLQDLNDRFANFIERVHELEQRNKVL

Xenopus tropicalis            AISSDLKIVRTQEKAQLQDLNDRFANFIERVHELEQRNKVL
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 93 – 124 Coil 1A
Modified residue 103 – 103 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; NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
Berciano J.; Peeters K.; Garcia A.; Lopez-Alburquerque T.; Gallardo E.; Hernandez-Fabian A.; Pelayo-Negro A.L.; De Vriendt E.; Infante J.; Jordanova A.;
J. Neurol. 263:361-369(2016)
Cited for: VARIANT CMTDIG SER-98; 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.