Variant position: 215 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 639 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 TSVTNTIVALMQAGDRTDFR RAFAGATVHDCFNWLSVLVLL
Mouse TSVTNTIVALMQAGDRTDFR RAFAGATVHDCFNWLSVLVLL
Rat TSVTNTIVALMQAGDRTDFR RAFAGATVHDCFNWLSVLVLL
Rabbit TSVTNTIVALMQAGDRTDFR RAFAGATVHDCFNWLSVLVLL
Sheep TSVTNTIVALMQAGDRTDFR RAFAGATVHDCFNWLSVLVLL
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 – 639 Sodium-dependent phosphate transport protein 2A
186 – 347 Extracellular
Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia.
Schlingmann K.P.; Ruminska J.; Kaufmann M.; Dursun I.; Patti M.; Kranz B.; Pronicka E.; Ciara E.; Akcay T.; Bulus D.; Cornelissen E.A.; Gawlik A.; Sikora P.; Patzer L.; Galiano M.; Boyadzhiev V.; Dumic M.; Vivante A.; Kleta R.; Dekel B.; Levtchenko E.; Bindels R.J.; Rust S.; Forster I.C.; Hernando N.; Jones G.; Wagner C.A.; Konrad M.;
J. Am. Soc. Nephrol. 27:604-614(2016)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN HCINF2; VARIANTS HCINF2 91-VAL--ALA-97 DEL; ALA-153; VAL-153; PRO-155; TRP-215; GLY-336; GLU-408 AND ARG-488; CHARACTERIZATION OF VARIANTS HCINF2 91-VAL--ALA-97 DEL; ALA-153; VAL-153; PRO-155; GLY-336; GLU-408 AND ARG-488;
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.