Sequence information
Variant position: 734 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 896 The length of the canonical sequence.
Location on the sequence:
QGIAKLYHSINENGYKFLYC
S ARAIGMADMTRGYLHWVNDK
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 QGIAKLYHSINENGYKFLYCS ARAIGMADMTRGYLHWVNDK
Mouse QGIARLYHSINENGYKFLYCS ARAIGMADMTRGYLHWVNDK
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
Chain
1 – 896
Phosphatidate phosphatase LPIN2
Region
635 – 837
C-LIP
Literature citations
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
Ferguson P.J.; Chen S.; Tayeh M.K.; Ochoa L.; Leal S.M.; Pelet A.; Munnich A.; Lyonnet S.; Majeed H.A.; El-Shanti H.;
J. Med. Genet. 42:551-557(2005)
Cited for: VARIANT MJDS LEU-734; TISSUE SPECIFICITY;
Disclaimer:
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.