Variant position: 38 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 640 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 RGSGKKPESAAGSQSPALPP RLKEMKSQESAAGSKLVLRCE
Rat RGSRGKPGPAEGDPSPALPP RLKEMKSQESAAGSKLVLRCE
Chicken QYSLAPTQTDVNSSYNTVPP KLKEMKNQEVAVGQKLVLRCE
Xenopus laevis RKGKKAEGSDQGA---AASP KLKEIKTQSVQEGKKLVLKCQ
Baker's yeast -------------------- ---------------------
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
20 – 640 Pro-neuregulin-1, membrane-bound isoform
20 – 241 Neuregulin-1
20 – 242 Extracellular
37 – 128 Ig-like C2-type
1 – 53 Disordered
34 – 34 Breakpoint for translocation to form gamma-heregulin
1 – 166 Missing. In isoform 10.
Molecular cloning of a brain-specific, developmentally regulated neuregulin 1 (NRG1) isoform and identification of a functional promoter variant associated with schizophrenia.
Tan W.; Wang Y.; Gold B.; Chen J.; Dean M.; Harrison P.J.; Weinberger D.R.; Law A.J.;
J. Biol. Chem. 282:24343-24351(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 11); ALTERNATIVE SPLICING; VARIANTS GLN-38 AND THR-289; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE;
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.