Variant position: 289 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 338 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 FNGSERKRKRTSIAAPEKRS LEAYFAIQPRPSSEKIAAIAE
Mouse FNGSERKRKRTSIAAPEKRS LEAYFAIQPRPSSEKIAAIAE
Rat FNGSERKRKRTSIAAPEKRS LEAYFAIQPRPSSEKIAAIAE
Zebrafish FNGNERKRKRTSIAAPEKRS LEAYFAIQPRPSSEKIAAIAE
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 – 338 POU domain, class 4, transcription factor 3
274 – 333 Homeobox
Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.
Pauw R.J.; van Drunen F.J.; Collin R.W.; Huygen P.L.; Kremer H.; Cremers C.W.;
Arch. Otolaryngol. Head Neck Surg. 134:294-300(2008)
Cited for: VARIANT DFNA15 PHE-289;
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.
Collin R.W.J.; Chellappa R.; Pauw R.-J.; Vriend G.; Oostrik J.; van Drunen W.; Huygen P.L.; Admiraal R.; Hoefsloot L.H.; Cremers F.P.M.; Xiang M.; Cremers C.W.R.J.; Kremer H.;
Hum. Mutat. 29:545-554(2008)
Cited for: VARIANTS DFNA15 PRO-223 AND PHE-289; CHARACTERIZATION OF VARIANTS DFNA15 PRO-223 AND PHE-289; FUNCTION; DNA-BINDING; SUBCELLULAR LOCATION;
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.