SCO2 R20P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

SCO2 R20P

(SCO2 Arg20Pro)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr22:50962782: 62.9% (6744/10714) in EVS
  • G @ chr22:49309647: 62.1% (77/124) in GET-Evidence
  • Frequency shown in summary reports: 62.9% (6744/10714)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr22:50962782

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr22:50962782

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr22:50962782

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr22:50962782

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr22:50962782

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr22:50962782

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr22:50962782

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr22:49309648

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr22:49309648

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr22:49309648

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr22:49309648

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr22:49309648

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr22:49309648

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr22:49309648

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr22:49309648

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr22:49309648

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr22:49309648

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr22:49309648

 

Added in this revision:

GS18526 - var-GS18526-1100-36-ASM
het G @ chr22:49309648

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

snp-18

 

snp-2

 

snp-27

 

snp-28

 

snp-29

 

snp-3

 

snp-30

 

snp-5

 

Other external references
 

    dbSNP
  • rs140523
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SCO2 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear g
    Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxid
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCO2
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • SCO2
    function of the second closely related Sco2 gene is unclear as its ... The R20P sequence. variant (G1182C) occurs in the N-terminal mitochondrial targeting. sequence in several ...
    hmg.oxfordjournals.org/cgi/reprint/9/5/795.pdf
  • Mutations in SCO2 are associated with a distinct form of ...
    Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and ... The R20P sequence variant (G1182C) occurs in the N-terminal ...
    hmg.oxfordjournals.org/cgi/content/full/9/5/795
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in