Database        MYO5Abase
Version         1.0
File            myo5apub.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/MYO5Abase/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF80.html
Gene            MYO5A
Disease         Griscelli syndrome, type 1 (GS1)
OMIM            160777
GDB             218824
Sequence        IDRefSeq:D0062; IDRefSeq:C0062; UniProt:Q9Y4I1 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              R778X(1),R778X(1); standard; MUTATION; IQ1,IQ1
Accession       M0002
Systematic name Allele 1 and 2: g.153616C>T, c.2332C>T, r.2332c>u,
Systematic name p.Arg778X
Original code   Patient 3
Description     Allele 1 and 2: a point mutation in the exon 19 leading to
Description     a premature stop codon in the IQ1 domain
Date            08-Sep-2004 (Rel. 1, Created)
Date            08-Sep-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9207796
RefAuthors      Pastural, E., Barrat, F. J., Dufourcq-Lagelouse, R., 
RefAuthors      Certain, S., Sanal, O., Jabado, N., Seger, R., Griscelli, 
RefAuthors      C., Fischer, A., de Saint Basile, G.
RefTitle        Griscelli disease maps to chromosome 15q21 and is 
RefTitle        associated with mutations in the myosin-va gene.
RefLoc          Nat Genet 16:289-292 (1997)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0062: 153616
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0062: 2582
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q9Y4I1; MYO5A_HUMAN: 778
Feature           /change: R -> X
Feature           /domain: IQ1
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0062: 153616
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 19
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0062: 2582
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: Q9Y4I1; MYO5A_HUMAN: 778
Feature           /change: R -> X
Feature           /domain: IQ1
Symptoms        Neurologic defects:
Symptoms           Mental retardation; Hypotonia; Motor development delay
Sex             XX
Ethnic origin   Caucasoid; Turkey
Parents         Consanguineous
//
ID              R1246C(1),R1246C(1); standard; MUTATION;
Accession       M0001
Systematic name Allele 1 and 2: g.178684C>T, c.3736C>T, r.3736c>u,
Systematic name p.Arg1246Cys
Original code   Patient 2
Description     Allele 1 and 2: a point mutation in the exon 28 leading to
Description     an amino acid change
Date            08-Sep-2004 (Rel. 1, Created)
Date            08-Sep-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9207796
RefAuthors      Pastural, E., Barrat, F. J., Dufourcq-Lagelouse, R., 
RefAuthors      Certain, S., Sanal, O., Jabado, N., Seger, R., Griscelli, 
RefAuthors      C., Fischer, A., de Saint Basile, G.
RefTitle        Griscelli disease maps to chromosome 15q21 and is 
RefTitle        associated with mutations in the myosin-va gene.
RefLoc          Nat Genet 16:289-292 (1997)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0062: 178684
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 28
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0062: 3986
Feature           /codon: cgt -> tgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q9Y4I1; MYO5A_HUMAN: 1246
Feature           /change: R -> C
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0062: 178684
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 28
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0062: 3986
Feature           /codon: cgt -> tgt; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: Q9Y4I1; MYO5A_HUMAN: 1246
Feature           /change: R -> C
Sex             XY
Ethnic origin   Caucasoid; Turkey
Parents         Consanguineous
//