Variant position: 48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 232 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 LGTPLWIKATVLCKTGALLV NASGQELDKFMGEMQYGLFHG
Mouse VGTPLWVKATILCKTGALLV NASGKELDKFMGEMQYGLFHG
Rat LGTPLWIKATVLCKTGALLV NASGQELDKFMGEMQYGLFHG
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 – 232 Clarin-1
48 – 48 N-linked (GlcNAc...) asparagine
1 – 85 MPSQQKKIIFCMAGVFSFACALGVVTALGTPLWIKATVLCKTGALLVNASGQELDKFMGEMQYGLFHGEGVRQCGLGARPFRFSF -> MQALQQQPV. In isoform 2.
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
Fields R.R.; Zhou G.; Huang D.; Davis J.R.; Moeller C.; Jacobson S.G.; Kimberling W.J.; Sumegi J.;
Am. J. Hum. Genet. 71:607-617(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS USH3A LYS-48 AND PRO-150;
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Adato A.; Vreugde S.; Joensuu T.; Avidan N.; Hamalainen R.; Belenkiy O.; Olender T.; Bonne-Tamir B.; Ben-Asher E.; Espinos C.; Millan J.M.; Lehesjoki A.-E.; Flannery J.G.; Avraham K.B.; Pietrokovski S.; Sankila E.-M.; Beckmann J.S.; Lancet D.;
Eur. J. Hum. Genet. 10:339-350(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT USH3A LYS-48; FUNCTION;
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.