Variant position: 9 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 52 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 MEKVQYLT RSAIRRASTIEMPQQARQKLQ
Mouse MEKVQYLT RSAIRRASTIEMPQQARQNLQ
Rat MEKVQYLT RSAIRRASTIEMPQQARQNLQ
Pig MDKVQYLT RSAIRRASTIEMPQQARQNLQ
Bovine MDKVQYLT RSAIRRASTIEMPQQARQNLQ
Rabbit MEKVQYLT RSAIRRASTIEMPQQARQNLQ
Dog MDKVQYLT RSAIRRASTIEMPQQARQNLQ
Chicken MEKVQYIT RSALRRASTLEVNPQARQRLQ
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 – 52 Cardiac phospholamban
1 – 31 Cytoplasmic
1 – 1 N-acetylmethionine
16 – 16 Phosphoserine; by PKA and DMPK
17 – 17 Phosphothreonine; by CaMK2
9 – 9 R -> HL. Impairs phosphorylation by PKA and inhibition of ATP2A1-mediated calcium uptake.
13 – 13 R -> A. Abolishes phosphorylation by PKA.
14 – 14 R -> A. Abolishes phosphorylation by PKA.
16 – 16 S -> A. Abolishes phosphorylation by PKA.
17 – 17 T -> A. No effect on phosphorylation by PKA.
4 – 14
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
Ceholski D.K.; Trieber C.A.; Holmes C.F.; Young H.S.;
J. Biol. Chem. 287:26596-26605(2012)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS CMD1P CYS-9 AND ARG-14 DEL; SUBCELLULAR LOCATION; PHOSPHORYLATION AT SER-16; MUTAGENESIS OF ARG-9; ARG-13; ARG-14; SER-16 AND THR-17;
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
Schmitt J.P.; Kamisago M.; Asahi M.; Li G.H.; Ahmad F.; Mende U.; Kranias E.G.; MacLennan D.H.; Seidman J.G.; Seidman C.E.;
Cited for: VARIANT CMD1P CYS-9; CHARACTERIZATION OF VARIANT CMD1P CYS-9;
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
Ceholski D.K.; Trieber C.A.; Young H.S.;
J. Biol. Chem. 287:16521-16529(2012)
Cited for: CHARACTERIZATION OF VARIANTS CMD1P CYS-9 AND ARG-14 DEL; 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.