HBA2 V1G - 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:

HBA2 V1G

(HBA2 Val1Gly)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (8 hits -- see all)
  • RCSB PDB : Biology and Chemistry Report for 1GLI ...
    1GLI: Probing the alpha 1 beta 2 interface of human hemoglobin by mutagenesis. Role of the FG-C contact regions.
    rcsb.org/pdb/explore/biologyAndChemistry.do?structureId=1GLI
  • bmr3442.str.corr
    ... Deoxyhemoglobin T38w (Alpha Chains), V1g (Alpha And Beta Chains) ... AAH05931.1 "HBA2 protein [Homo sapiens]" 99.30 142 100 100 2e-76 PIR HACZP "hemoglobin alpha chain - pygmy ...
    redpoll.pharmacy.ualberta.ca/RefDB/corrdata/bmr3442.str.corr
  • <!DOCTYPE xhtml PUBLIC "-/W3C/DTD XHTML 1.0 Transitional/EN ...
    ... <body><pre> [41m(* TRANS-DATA [ 751 lines ] trans ver1.0 *) [m &lt;TRANS02: ... &gt;s±X:OC\m!ai%2MB+w!qnN$Yp¢&quot;9##_FR?{%SqD2#&lt; :I2qb/¿'T&amp;#BI3/b25 ...
    www.retropc.net/ohishi/fenix/FX02doc.txt
  • Trip Table トリップ一覧 #INAMHKA-#INAPDJB
    It is a list of the TRIP displayed in a certain BBS.よくある掲示板で表示されるトリップの一覧(例)です。
    trip-table.com/.../a52fdc5b9092b974bb302eef2e79f815.html
  • #00305
    Baby Games is non-competitive and encouraging as well as fun to play and educational. ... fCS'MA"k"Ljq"5cbpImPAY(J`0"Y3,V1G QAadc1rIp`C61IlJq5aI8C0'DZU2+%eYHZZNecd ...
    ftp.sunet.se/pub/mac/info-mac/_Game/lost found/#00305
  • bmr5809.str
    ... Chemical Shift Assignments for the cyanomet complex of the isolated alpha-chain ... HEM HBA1 H -0.7 0.2 1 18 1 HEM HBA2 H -0.62 0.2 1 19 1 HEM HHC H 1.81 ...
    www.bmrb.wisc.edu/data_library/files/bmr5809.str
  • Trip Table トリップ一覧 #TLRVZUM-#TLRYVTN
    It is a list of the TRIP displayed in a certain BBS.よくある掲示板で表示されるトリップの一覧(例)です。
    trip-table.com/.../a5d62900445a80e191e44ef387b547cc.html

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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