Variant position: 18 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 115 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 MIPAKDMAKVMIVMLAI CFLTKSDGKSVKKRSVSEIQL
Rat MMSASTMAKVMILMLAV CLLTQADGKPVKKRAVSEIQL
Pig MMSAKDTVKVMVVMLAI CFLARSDGKPIKKRSVSEIQL
Bovine MMSAKDMVKVMIVMLAI CFLARSDGKSVKKRAVSEIQF
Cat MMSAKDMVKVMVVMFAI CFLAKSDGKPVKKRSVSEIQF
Horse MMSAKNMVKVMIVMFAI FLLAKSDGKPVRKRSVSEIQL
Chicken MTSTKNLAKAIVILYAI CFFTNSDGRPMMKRSVSEMQL
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 – 25
16 – 16 A -> R. Abolishes processing of the precursor; when associated with variant R-18.
Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein.
Karaplis A.C.; Lim S.-K.; Baba H.; Arnold A.; Kronenberg H.M.;
J. Biol. Chem. 270:1629-1635(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-31; MUTAGENESIS OF ALA-16; VARIANT ARG-18;
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
Arnold A.; Horst S.A.; Gardella T.J.; Baba H.; Levine M.A.; Kronenberg H.M.;
J. Clin. Invest. 86:1084-1087(1990)
Cited for: VARIANT FIH ARG-18;
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.
Datta R.; Waheed A.; Shah G.N.; Sly W.S.;
Proc. Natl. Acad. Sci. U.S.A. 104:19989-19994(2007)
Cited for: CHARACTERIZATION OF VARIANT FIH ARG-18;
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.