Variant position: 245 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 675 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 LSLVMDDEIESEAKKESLSP GKLKLTFEELERQRQENRKKQ
Mouse LSLVMDDE--TEAKKESHFP GKLKSTFEELERQRQENRKKQ
Rat LSLVMDDE--TEAKKESRFP GKLKSTFEELERQRQENRKKQ
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 – 675 Nexilin
241 – 241 Phosphoserine
237 – 298 Missing. In isoform 3.
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
Hassel D.; Dahme T.; Erdmann J.; Meder B.; Huge A.; Stoll M.; Just S.; Hess A.; Ehlermann P.; Weichenhan D.; Grimmler M.; Liptau H.; Hetzer R.; Regitz-Zagrosek V.; Fischer C.; Nurnberg P.; Schunkert H.; Katus H.A.; Rottbauer W.;
Nat. Med. 15:1281-1288(2009)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; TISSUE SPECIFICITY; VARIANTS CMD1CC THR-611; GLY-650 DEL AND CYS-652; VARIANT ARG-245; CHARACTERIZATION OF VARIANTS CMD1CC THR-611; GLY-650 DEL AND CYS-652;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 100-675 (ISOFORM 1); VARIANT ARG-245;
Molecular cloning of NELIN, a putative human cytoskeleton regulation gene.
Zhao Y.; Wei Y.-J.; Cao H.-Q.; Ding J.-F.;
Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 33:19-24(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 91-675 (ISOFORM 1); FUNCTION; TISSUE SPECIFICITY; VARIANT ARG-245;
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.