Variant position: 281 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2332 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 CNENSESFLWSTASPSPTLG RVTPPSRTTHSSSTLTQNEIS
Mouse CNENSDSFLWSTTSPSPTLS RATPPLRTTHLSNTLARNKIS
Rat CNENSESFLWSTTSPSPTLG RVTPTVRTTQSSSTAARSKIS
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
36 – 2332 Phosphatidylinositol phosphatase PTPRQ
36 – 1947 Extracellular
199 – 294 Fibronectin type-III 3
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
Schraders M.; Oostrik J.; Huygen P.L.; Strom T.M.; van Wijk E.; Kunst H.P.; Hoefsloot L.H.; Cremers C.W.; Admiraal R.J.; Kremer H.;
Am. J. Hum. Genet. 86:604-610(2010)
Cited for: TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; VARIANT DFNB84A GLY-281;
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.