Variant position: 8 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:
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 MSSFSYE PYYSTSYKRRYVE-TPRVHISS
Mouse MSSFGYD PYFSTSYKRRYVE-TPRVHIS
Rat MSSFSYE PYFSTSYKRRYVE-TPRVHIS
Pig MSSFYSE PYYSTSYKRRYVE-TPRVHIS
Bovine MSSFSYE PYYSTSYKRRYVE-TPRVHIS
Xenopus laevis MSSYSYD PYY-TPYKRRVVESSPRVHI-
Xenopus tropicalis MSSYSYD PYY-TSYKRRVVESSPRVHI-
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
1 – 1 Removed
2 – 543 Neurofilament light polypeptide
2 – 92 Head
2 – 2 N-acetylserine
23 – 23 Asymmetric dimethylarginine; alternate
23 – 23 Omega-N-methylarginine; alternate
21 – 21 O-linked (GlcNAc) threonine
27 – 27 O-linked (GlcNAc) serine
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
De Jonghe P.; Mersivanova I.; Nelis E.; Del Favero J.; Martin J.-J.; Van Broeckhoven C.; Evgrafov O.; Timmerman V.;
Ann. Neurol. 49:245-249(2001)
Cited for: VARIANT CMT2E ARG-8;
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.;
Cited for: VARIANTS CMT1F ARG-8; LEU-8; GLN-8; LYS-90; SER-98 AND GLU-527 DEL; VARIANTS LYS-7 AND ASN-468;
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;
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