Variant position: 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 487 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 AALLSSLARCSLLEPRDPVA SSLSPYFGTKTRY-----------------EDVNPVLL
Mouse AALLSSFARCSLPGRGDPVA SVLSPYFGTKTRY--------
Rat AALLSSFARCSLPGRGDPVA SVLSPYFGTKTRY--------
Chicken GGY----------------- ------FGTKSRY--------
Drosophila DDYCFSKDTSRLQTRQ---- ------FSSKTAY--------
Slime mold SSSQSSDNNGNLSPIQDYDL EFLSKHLTTKTPYWILTKNGD
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
31 – 487 Multiple inositol polyphosphate phosphatase 1
1 – 213 MLRAPGCLLRTSVAPAAALAAALLSSLARCSLLEPRDPVASSLSPYFGTKTRYEDVNPVLLSGPEAPWRDPELLEGTCTPVQLVALIRHGTRYPTVKQIRKLRQLHGLLQARGSRDGGASSTGSRDLGAALADWPLWYADWMDGQLVEKGRQDMRQLALRLASLFPALFSRENYGRLRLITSSKHRCMDSSAAFLQGLWQHYHPGLPPPDVAD -> MCLFQLCGLVRY. In isoform 4.
Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.
Gimm O.; Chi H.; Dahia P.L.; Perren A.; Hinze R.; Komminoth P.; Dralle H.; Reynolds P.R.; Eng C.;
J. Clin. Endocrinol. Metab. 86:1801-1805(2001)
Cited for: INVOLVEMENT IN NMTC2; VARIANTS NMTC2 LEU-41 AND ARG-270;
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.