LYZ T88N - 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:

LYZ T88N

(LYZ Thr88Asn)


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

  • A @ chr12:69744014: 5.1% (552/10758) in EVS
  • A @ chr12:68030280: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 5.1% (552/10758)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs1800973
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.923 (probably damaging)
    Web search results (7 hits -- see all)
  • ABSTRACT Title of Document: COMPUTATIONAL MODELING OF THE ...
    identify non-synonymous single base changes (the most common cause of ... analyzes the effect of the resulting amino acid change on protein stability by utilizing ...
    www.lib.umd.edu/drum/bitstream/1903/3157/1/umi-umd-2979.pdf
  • Identification and Analysis of Deleterious Human SNPs
    We have developed two methods of identifying which non-synonomous. single base changes ... LYZ. 1800973. K. 0.92. K. 0.72. T88N. 0.015. Hapmap. afr,eur,chn,jap. CHAT. 8178990. K. 0.82. K. 1.26 ...
    moult.umbi.umd.edu/pdfs/deleteriousHumanSNPs.pdf
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 95%
    ... 809 VAR_014855 gCK1 (0.641) Polymorphism (dbSNP:rs1801120) GALC P54803 Y551S 551 ... 790) Src (0.862) 11668628 LYZ P61626 T88N 88 VAR_012050 CMGC (0.885) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_95.txt
  • .::HENTBOL HAKEMLERi VE GOZLEMCiLERi DERNEGi::. - BÜYÜK ...
    20 takımın mücadele ettiği Avrupa Şampiyonası Play-Off müsabakaları sona erdi. Kura ... sex C25 1zPQ , free amature video Rtmn t88n , coco nude pictures yyw AYxh , nick lachey ...
    hentbolhgd.org/dernek/modules.php?name=News&file=article&...
  • paris_0117.yuv
     €...‡eWo}"™ˆ®œ¢mp™ ¡¼ã\"пÄÐÏÍÞÔÎáÎ"ÓÖÑÏՐâçèš¾...ØêääæŽåæãáÝëÓêÞßÝç¿ÇÀ¿"©À ... xjqnqRoelcclfghgmlTk~TolnpmnuNvtTrëëw ̃ëë ̧}çàè ââë†Q|kª"du~brt|"dx ...
    wftp3.itu.int/av-arch/video-site/.../Paris/paris_0117.yuv

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in