SCD M224L - GET-Evidence

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

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Curation:
Currentness:

SCD M224L

(SCD Met224Leu)


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

  • C @ chr10:102116311: 40.4% (4348/10758) in EVS
  • C @ chr10:102106300: 47.7% (61/128) in GET-Evidence
  • Frequency shown in summary reports: 40.4% (4348/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom C @ chr10:102116311

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr10:102116311

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr10:102116311

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr10:102116311

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr10:102116311

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chr10:102116311

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr10:102116311

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr10:102116311

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr10:102116311

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr10:102116311

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom C @ chr10:102116311

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr10:102116311

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr10:102116311

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr10:102116311

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr10:102116311

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr10:102116311

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr10:102116311

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr10:102116311

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr10:102116311

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr10:102116311

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr10:102116311

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr10:102106301

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr10:102106301

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr10:102106301

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr10:102106301

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr10:102106301

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr10:102106301

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr10:102106301

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr10:102106301

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr10:102106301

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr10:102106301

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr10:102106301

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr10:102106301

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr10:102106301

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr10:102106301

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr10:102106301

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr10:102106301

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr10:102106301

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr10:102106301

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr10:102106301

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr10:102106301

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr10:102106301

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr10:102106301

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr10:102106301

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr10:102106301

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr10:102106301

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr10:102106301

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr10:102106301

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr10:102106301

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr10:102106301

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr10:102106301

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr10:102106301

 

Other external references
 

    dbSNP
  • rs2234970
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (9 hits -- see all)
  • Analysis of the contribution to type 2 diabetes ...
    Scd-null mice display a beneficial metabolic phenotype characterised ... METHODS: The SCD gene was resequenced in 23 diabetic subjects. Six variants within coding ...
    tripdatabase.com/doc/409525-Analysis-of-the-contribution-...
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs11598233*SCD NM_005063 NP_005054*M224L,stearoyl-CoA desaturase (delta-9-desaturase) ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • 49: Neurodegener Dis. 2005;2(1):28-35.
    Scd-null mice display a beneficial metabolic phenotype characterised ... that the SCD variants typed do not explain chromosome-10-encoded susceptibility ...
    students.sabanciuniv.edu/~mugeerdogmus/ambi2000.html
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... 16959974 OR6C74 A6NCV1 R2G 5 VAR_036981 RSK (0.850) Polymorphism (dbSNP: ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Analysis of the contribution to type 2 diabetes ...
    AIMS/HYPOTHESIS: Stearoyl-CoA desaturase (SCD) is emerging as a key regulator of ... SCD, maps to a region of chromosome 10 linked to type 2 diabetes, and ...
    lib.bioinfo.pl/pmid:15662557
  • A semi-automated assay for plasma catecholamines using high ...
    BioInfoBank Library :: A semi-automated assay for plasma catecholamines using high-performance liquid chromatography with electrochemical detection. Substrate ...
    lib.bioinfo.pl/pmid:6697529

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

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