Variant position: 135 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 248 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 HNLDYSDNGTFTCDVKNPPD IVGKTSQVTLYVFEKVPTRYG
Mouse HNLDYSDNGTFTCDVKNPPD IVGKTSQVTLYVFEKVPTRYG
Rat HNLDYSDNGTFTCDVKNPPD IVGKTSQVTLYVFEKVPTRYG
Bovine HNLDYGDNGTFTCDVKNPPD IVGKTSQVTLYVFEKVPTRYG
Horse HNLDYSDNGTFTCDVKNPPD IVGKTSQVTLYVFEKVPTRYG
Chicken HNLDYTDNGTFTCDVKNPPD IVGKSSQVTLYVLEKVPTRYG
Xenopus laevis HNLELTDNGTFTCDVKNPPD VVGKSSYVHLQVQEKGPARAG
Xenopus tropicalis HNLELIDNGTFTCDVKNPPD VVGKSSYVHLQVQEKGAARAG
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
30 – 248 Myelin protein P0
30 – 153 Extracellular
30 – 143 Ig-like V-type
122 – 122 N-linked (GlcNAc...) (complex) asparagine
134 – 148
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Roa B.B.; Warner L.E.; Garcia C.A.; Russo D.; Lovelace R.; Chance P.F.; Lupski J.R.;
Hum. Mutat. 7:36-45(1996)
Cited for: VARIANTS CMT1B THR-135 AND SER-137;
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Mersiyanova I.V.; Ismailov S.M.; Polyakov A.V.; Dadali E.L.; Fedotov V.P.; Nelis E.; Loefgren A.; Timmerman V.; Van Broeckhoven C.; Evgrafov O.V.;
Hum. Mutat. 15:340-347(2000)
Cited for: VARIANTS CMT1B HIS-98; GLY-134; GLU-134; THR-135; ASN-138 AND ASN-139;
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.