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UniProtKB/Swiss-Prot Q8NHW3: Variant p.Ser64Phe

Transcription factor MafA
Gene: MAFA
Variant information

Variant position:  64
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Phenylalanine (F) at position 64 (S64F, p.Ser64Phe).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and polar (S) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Insulinomatosis and diabetes mellitus (INSDM) [MIM:147630]: An autosomal dominant disorder characterized by the occurrence of multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin-dependent diabetes mellitus, and impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma. {ECO:0000269|PubMed:29339498}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In INSDM; may prevent phosphorylation at S-65; may enhance protein stability.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   RLPPGSLSSTPLSTPCSSVP  S SPSFCAPSPGTGGGGGAGGG
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                         RLPPGSLSSTPLSTPCSSVPSSPSFCAPSPGTGGGGGAGGG

Mouse                         RLPPGSLSSTPLSTPCSSVPSSPSFCAPSPGTGG--GAGGG

Rat                           RLPPGSLSSTPLSTPCSSVPSSPSFCAPSPGTGS--SAGGG

Chicken                       RLPAGSLSSTPLSTPCSSVPSSPSFCAPSPGGQP-------

Xenopus tropicalis            RLPPGSLSSTPISTPCSSVPSSPSFCAPSPGAQS-------

Zebrafish                     RLPPGSLSSTPISTPCSSVPSSPSFCAPSPGSQP-----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.

TypePositionsDescription
Chain 1 – 353 Transcription factor MafA
Modified residue 49 – 49 Phosphoserine
Modified residue 53 – 53 Phosphothreonine
Modified residue 57 – 57 Phosphothreonine
Modified residue 61 – 61 Phosphoserine
Modified residue 65 – 65 Phosphoserine


Literature citations

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;

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.