Variant position: 183 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 254 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 SITHYRPVS-ASRSSLDLSYY PTSSSTSFMSSSSSSSSWLTR
Mouse SIAHYRPISNVSRSSLGLSYY PTSSTSSVSSSSSSPSSWLT
Rat SIAEYRPISNVSRSSLGLSYY PRSSTSSVSSSSSSPSSWLT
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 – 254 Emerin
46 – 222 Interaction with F-actin
168 – 186 Interaction with CTNNB1
171 – 171 Phosphoserine
173 – 173 Phosphoserine
175 – 175 Phosphoserine
196 – 196 S -> A. No loss of binding to F-actin; when associated with A-197.
197 – 197 S -> A. No loss of binding to F-actin; when associated with A-196.
Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.
Holaska J.M.; Kowalski A.K.; Wilson K.L.;
PLoS Biol. 2:1354-1362(2004)
Cited for: FUNCTION; INTERACTION WITH ACTB; SPTAN1 AND F-ACTIN; MUTAGENESIS OF SER-196 AND SER-197; CHARACTERIZATION OF VARIANTS EDMD1 PHE-54; HIS-133 AND HIS-183;
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
Ellis J.A.; Yates J.R.W.; Kendrick-Jones J.; Brown C.A.;
Hum. Genet. 104:262-268(1999)
Cited for: VARIANTS EDMD1 HIS-183 AND THR-183;
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.