Database        MLPHbase
Version         1.0
File            mlphpub.html
Date            18-Jun-2007
Curator         Mauno Vihinen
Address         Protein Structure and Bioinformatics 
Address         Lund University, BMC D10, SE-22184 Lund, Sweden
Phone           +46 72 526 0022
Fax             +46 46 222 9328
Email           Mauno Vihinen
URL             http://structure.bmc.lu.se/idbase/MLPHbase/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF156.html
Gene            MLPH
Disease         Griscelli syndrome, type 3 (GS3)
OMIM            606526
Sequence        IDRefSeq:D0059; IDRefSeq:C0059; UniProt:Q9BV36 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              R35W(1),R35W(1); standard; MUTATION; Rab-bind,Rab-bind
Accession       M0001
Systematic name Allele 1 and 2: g.7243C>T, c.103C>T, r.103c>u, p.Arg35Trp
Original code   PA
Description     Allele 1 and 2: a point mutation in the exon 2 leading to
Description     an amino acid change in the Rab-bind domain
Date            09-Sep-2004 (Rel. 1, Created)
Date            09-Sep-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12897212
RefAuthors      Menasche, G., Ho, C. H., Sanal, O., Feldmann, J., Tezcan, 
RefAuthors      I., Ersoy, F., Houdusse, A., Fischer, A., de Saint 
RefAuthors      Basile, G.
RefTitle        Griscelli syndrome restricted to hypopigmentation results 
RefTitle        from a melanophilin defect (GS3) or a MYO5A F-exon 
RefTitle        deletion (GS1).
RefLoc          J Clin Invest 112:450-456 (2003)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0059: 7243
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0059: 278
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q9BV36; MELPH_HUMAN: 35
Feature           /change: R -> W
Feature           /domain: Rab-bind
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0059: 7243
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0059: 278
Feature           /codon: cgg -> tgg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: Q9BV36; MELPH_HUMAN: 35
Feature           /change: R -> W
Feature           /domain: Rab-bind
Sex             XY
Parents         Consanguineous
Comment         Patient's symptoms restricted to hypopigmentation
//