UniProtKB/Swiss-Prot P07196: Variant p.Tyr265Cys

Neurofilament light polypeptide
Gene: NEFL
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Variant information Variant position:

265 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Tyrosine (Y) to Cysteine (C) at position 265 (Y265C, p.Tyr265Cys). 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 large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

In CMT2E; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs587777880 [ dbSNP | Ensembl ]

Sequence information Variant position:

265 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:

VEMDVTKPDLSAALKDIRAQ Y EKLAAKNMQNAEEWFKSRFT 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                         VEMDV-TKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFT

Mouse                         VEMDVSSKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRF

Rat                           VEMDVSSKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRF

Pig                           VEMDVSSKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRF

Bovine                        VEMDVSSKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRF

Xenopus laevis                LEVEV-AKPDLSSALRDIRGQYEKLAAKNMQSAEEWFKSRF

Xenopus tropicalis            LEVEV-AKPDLSSALRDIRAQYEKLAAKNMQSAEDWFKSRF

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
Domain	90 – 400	IF rod
Region	253 – 271	Coil 2A

Literature citations
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew A.P.; Zhu D.; Kidambi A.; Ly C.; Tey S.; Brewer M.H.; Ahmad-Annuar A.; Nicholson G.A.; Kennerson M.L.;
Mol. Genet. Genomic Med. 3:143-154(2015)
Cited for: VARIANTS CMT2E CYS-265; PRO-268; PRO-336 AND LEU-440;

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.