SCO2 R20P - GET-Evidence

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

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Curation:
Currentness:

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SCO2 R20P

(SCO2 Arg20Pro)


You are viewing an old version of this page that was saved on November 29, 2012 at 4:06am 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

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr22:50962782

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom G @ chr22:50962782

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr22:50962782

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
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

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom 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

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr22:50962782

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr22:50962782

 

Added in this revision:

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr22:50962782

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr22:50962782

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
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

 

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

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr22:49309648

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr22:49309648

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr22:49309648

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr22:49309648

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr22:49309648

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr22:49309648

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr22:49309648

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr22:49309648

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr22:49309648

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr22:49309648

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr22:49309648

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr22:49309648

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr22:49309648

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr22:49309648

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr22:49309648

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr22:49309648

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr22:49309648

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr22:49309648

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr22:49309648

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr22:49309648

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr22:49309648

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr22:49309648

 

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":

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