Variant position: 372 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 586 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 MDCYNVVKDSWYSKLGPPTP RDSLAACAAEGKIYTSGGSEV
Mouse MDCYNVVKDSWYSKLGPPTP RDSLAACAAEGKIYTSGGSEV
Rat MDCYNVVKDSWYSKLGPPTP RDSLAACAAEGKIYTSGGSEV
Chicken MDCYNVVKDSWYSKLGPPTP RDSLAACAAEGKIYTSGGSEV
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 – 586 Kelch-like protein 7
337 – 382 Kelch 2
167 – 586 Missing. In isoform 3 and isoform 4.
Bi-allelic mutations in KLHL7 cause a Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa.
Angius A.; Uva P.; Buers I.; Oppo M.; Puddu A.; Onano S.; Persico I.; Loi A.; Marcia L.; Hoehne W.; Cuccuru G.; Fotia G.; Deiana M.; Marongiu M.; Atalay H.T.; Inan S.; El Assy O.; Smit L.M.; Okur I.; Boduroglu K.; Utine G.E.; Kilic E.; Zampino G.; Crisponi G.; Crisponi L.; Rutsch F.;
Am. J. Hum. Genet. 99:236-245(2016)
Cited for: VARIANTS CISS3 GLN-372; CYS-420 AND SER-421; CHARACTERIZATION OF VARIANTS CISS3 GLN-372; CYS-420 AND SER-421; INVOLVEMENT IN CISS3; 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.