Variant position: 64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 353 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 RLPPGSLSSTPLSTPCSSVP SSPSFCAPSPGTGGGGGAGGG
Mouse RLPPGSLSSTPLSTPCSSVP SSPSFCAPSPGTGG--GAGGG
Rat RLPPGSLSSTPLSTPCSSVP SSPSFCAPSPGTGS--SAGGG
Chicken RLPAGSLSSTPLSTPCSSVP SSPSFCAPSPGGQP-------
Xenopus tropicalis RLPPGSLSSTPISTPCSSVP SSPSFCAPSPGAQS-------
Zebrafish RLPPGSLSSTPISTPCSSVP SSPSFCAPSPGSQP-----GQ
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 – 353 Transcription factor MafA
49 – 49 Phosphoserine
53 – 53 Phosphothreonine
57 – 57 Phosphothreonine
61 – 61 Phosphoserine
65 – 65 Phosphoserine
missense mutation causes familial insulinomatosis and diabetes mellitus.
Iacovazzo D.; Flanagan S.E.; Walker E.; Quezado R.; de Sousa Barros F.A.; Caswell R.; Johnson M.B.; Wakeling M.; Braendle M.; Guo M.; Dang M.N.; Gabrovska P.; Niederle B.; Christ E.; Jenni S.; Sipos B.; Nieser M.; Frilling A.; Dhatariya K.; Chanson P.; de Herder W.W.; Konukiewitz B.; Kloeppel G.; Stein R.; Korbonits M.; Ellard S.;
Proc. Natl. Acad. Sci. U.S.A. 115:1027-1032(2018)
Cited for: INVOLVEMENT IN INSDM; VARIANT INSDM PHE-64; CHARACTERIZATION OF VARIANT INSDM PHE-64;
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.