Variant position: 91 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 400 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 VVSPDSIHSVAPENE----GRLVH IIGALRTSKLLSDPNYGVHLP
Mouse VVSPDSIHSVAPENE----GRLVH IIGALRTSKLLSDPNYG
Rat VVSPDSIHSVAPENE----GRLVH IIGALRTSKLLSDPNYG
Drosophila IYS---VRFTEEEQEVGLEGRIVH LSGPILVGEPLTEPDYN
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 – 400 Transmembrane protein 43
53 – 313 Perinuclear space
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
Liang W.C.; Mitsuhashi H.; Keduka E.; Nonaka I.; Noguchi S.; Nishino I.; Hayashi Y.K.;
Ann. Neurol. 69:1005-1013(2011)
Cited for: INTERACTION WITH SUN2; VARIANTS EDMD7 LYS-85 AND VAL-91; CHARACTERIZATION OF VARIANTS EDMD7 LYS-85 AND VAL-91;
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.