Variant position: 22 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 SSFSYEPYYSTSYKRRYVE-T PRVHISSVRSGY-STARSAYSS
Mouse SSFGYDPYFSTSYKRRYVE-T PRVHISSVRSGY-STARSAY
Rat SSFSYEPYFSTSYKRRYVE-T PRVHISSVRSGY-STARSAY
Pig SSFYSEPYYSTSYKRRYVE-T PRVHISSVRSGY-STARSAY
Bovine SSFSYEPYYSTSYKRRYVE-T PRVHISSVRSGY-STARSAY
Xenopus laevis SSYSYDPYY-TPYKRRVVESS PRVHI---RSSYVSPSRTTY
Xenopus tropicalis SSYSYDPYY-TSYKRRVVESS PRVHI---RSSYVSPSRTTY
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
2 – 543 Neurofilament light polypeptide
2 – 92 Head
2 – 2 N-acetylserine
23 – 23 Asymmetric dimethylarginine; alternate
23 – 23 Omega-N-methylarginine; alternate
30 – 30 Omega-N-methylarginine
21 – 21 O-linked (GlcNAc) threonine
27 – 27 O-linked (GlcNAc) serine
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
Georgiou D.-M.; Zidar J.; Korosec M.; Middleton L.T.; Kyriakides T.; Christodoulou K.;
Cited for: VARIANT CMT2E SER-22;
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.;
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;
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.