Variant position: 259 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 681 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 QDIARFFKGLNIAKGGAALC LNAQGRRNGEALVRFVSEEHR
Mouse QDIARFFKGLNIAKGGAALC LNAQGRRNGEALVRFVSEEHR
Rat QDIARFFKGLNIAKGGAALC LNAQGRRNGEALVRFVSEEHR
Xenopus laevis QDIARFFKGLNIAKGGAALC LNAQGRRNGEALVRFVSEEHR
Xenopus tropicalis QDIARFFKGLNIAKGGAALC LNAQGRRNGEALVRFVSEEHR
Zebrafish QDIARFFRGLNIAKGGAALC LNAQGRRNGEALVRFESEEHR
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 – 681 Epithelial splicing regulatory protein 1
225 – 302 RRM 1
ESRP1 mutations cause hearing loss due to defects in alternative splicing that disrupt cochlear development.
Rohacek A.M.; Bebee T.W.; Tilton R.K.; Radens C.M.; McDermott-Roe C.; Peart N.; Kaur M.; Zaykaner M.; Cieply B.; Musunuru K.; Barash Y.; Germiller J.A.; Krantz I.D.; Carstens R.P.; Epstein D.J.;
Dev. Cell 43:318-331(2017)
Cited for: INVOLVEMENT IN DFNB109; VARIANT DFNB109 VAL-259; CHARACTERIZATION OF VARIANT DFNB109 VAL-259;
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.