Variant position: 483 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 765 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 GPFHVLIITYAFMVLVTMVM RLISASGEVVPMSFALVLGWC
Mouse GPFHVIIITYAFMVLVTMVM RLTNVDGEVVPMSFALVLGWC
Rat GPFHVIIVTYAFMVLVTMVM RLTNSDGEVVPMSFALVLGWC
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 – 765 Transient receptor potential cation channel subfamily V member 6
464 – 483 Helical
467 – 484
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
Suzuki Y.; Chitayat D.; Sawada H.; Deardorff M.A.; McLaughlin H.M.; Begtrup A.; Millar K.; Harrington J.; Chong K.; Roifman M.; Grand K.; Tominaga M.; Takada F.; Shuster S.; Obara M.; Mutoh H.; Kushima R.; Nishimura G.;
Am. J. Hum. Genet. 102:1104-1114(2018)
Cited for: VARIANTS HRPTTN TYR-212; THR-223; GLN-425; ARG-428; GLU-451 AND TRP-483; VARIANT SER-18; CHARACTERIZATION OF VARIANTS HRPTTN TYR-212; THR-223; GLN-425; GLU-451; ARG-428 AND TRP-483; CHARACTERIZATION OF VARIANT SER-18; INVOLVEMENT IN HRPTTN; FUNCTION; 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.