Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.97933446860919      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM081289)
  • protein features (might be) affected
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:233655527A>GN/A show variant in all transcripts   IGV
HGNC symbol GIGYF2
Ensembl transcript ID ENST00000409196
Genbank transcript ID NM_001103148
UniProt peptide Q6Y7W6
alteration type single base exchange
alteration region CDS
DNA changes c.814A>G
cDNA.912A>G
g.93519A>G
AA changes I272V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 272
frameshift no
known variant Reference ID: rs118203904
databasehomozygous (G/G)heterozygousallele carriers
1000G011
ExAC02222

known disease mutation at this position, please check HGMD for details (HGMD ID CM081289)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081289)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081289)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2391
0.4921
(flanking)3.3351
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased93516wt: 0.7236 / mu: 0.7424 (marginal change - not scored)wt: GTGGGAGCATAGATG
mu: GTGGGAGCGTAGATG		 GGGA|gcat
Donor gained935130.66mu: GCAGTGGGAGCGTAG AGTG|ggag
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      272GYRRVRSGSGSIDDDRDSLPEWCL
mutated  all conserved    272GYRRVRSGSGSVDDDRDSLPEWC
Ptroglodytes  all identical  ENSPTRG00000028976  294GYRRVRSGSGSI
Mmulatta  all identical  ENSMMUG00000012211  312GSIDDDRDSLPEWC
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000048000  275GYRRVRSGSGSIDDDRDSLPEWC
Ggallus  not conserved  ENSGALG00000001482  465KRREEEELA------RRK
Trubripes  all conserved  ENSTRUG00000008935  287GYRRPRSGSGSLEDER
Drerio  not conserved  ENSDARG00000009735  279GYRRPRSGSGSAEEERDSLPE
Dmelanogaster  all identical  FBgn0039936  313GNNKGSGIGAAEGVGSISHPRLSSSKISQLWTVNNAAGVDADENLPEWA
Celegans  no alignment  C18H9.3  n/a
Xtropicalis  no alignment  ENSXETG00000013890  n/a
protein features
start (aa)end (aa)featuredetails 
118272COMPBIASArg-rich.lost
370370MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
373373MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
376376MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
382382MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
436473COMPBIASPro-rich.might get lost (downstream of altered splice site)
533581DOMAINGYF.might get lost (downstream of altered splice site)
547563REGIONRequired for GRB10-binding (By similarity).might get lost (downstream of altered splice site)
593593MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
6071025COMPBIASGln-rich.might get lost (downstream of altered splice site)
738888COMPBIASGlu-rich.might get lost (downstream of altered splice site)
792792CONFLICTE -> G (in Ref. 5; CAD98095).might get lost (downstream of altered splice site)
11531153CONFLICTD -> G (in Ref. 5; CAD98095).might get lost (downstream of altered splice site)
11981252COMPBIASGln-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3882 / 3882
position (AA) of stopcodon in wt / mu AA sequence 1294 / 1294
position of stopcodon in wt / mu cDNA 3980 / 3980
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 99 / 99
chromosome 2
strand 1
last intron/exon boundary 3913
theoretical NMD boundary in CDS 3764
length of CDS 3882
coding sequence (CDS) position 814
cDNA position
(for ins/del: last normal base / first normal base)		 912
gDNA position
(for ins/del: last normal base / first normal base)		 93519
chromosomal position
(for ins/del: last normal base / first normal base)		 233655527
original gDNA sequence snippet TTCGCTCTGGCAGTGGGAGCATAGATGATGACAGGGATAGC
altered gDNA sequence snippet TTCGCTCTGGCAGTGGGAGCGTAGATGATGACAGGGATAGC
original cDNA sequence snippet TTCGCTCTGGCAGTGGGAGCATAGATGATGACAGGGATAGC
altered cDNA sequence snippet TTCGCTCTGGCAGTGGGAGCGTAGATGATGACAGGGATAGC
wildtype AA sequence MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPGWR
EHMERRRRFE FDFRDRDDER GYRRVRSGSG SIDDDRDSLP EWCLEDAEEE MGTFDSSGAF
LSLKKVQKEP IPEEQEMDFR PVDEGEECSD SEGSHNEEAK EPDKTNKKEG EKTDRVGVEA
SEETPQTSSS SARPGTPSDH QSQEASQFER KDEPKTEQTE KAEEETRMEN SLPAKVPSRG
DEMVADVQQP LSQIPSDTAS PLLILPPPVP NPSPTLRPVE TPVVGAPGMG SVSTEPDDEE
GLKHLEQQAE KMVAYLQDSA LDDERLASKL QEHRAKGVSI PLMHEAMQKW YYKDPQGEIQ
GPFNNQEMAE WFQAGYFTMS LLVKRACDES FQPLGDIMKM WGRVPFSPGP APPPHMGELD
QERLTRQQEL TALYQMQHLQ YQQFLIQQQY AQVLAQQQKA ALSSQQQQQL ALLLQQFQTL
KMRISDQNII PSVTRSVSVP DTGSIWELQP TASQPTVWEG GSVWDLPLDT TTPGPALEQL
QQLEKAKAAK LEQERREAEM RAKREEEERK RQEELRRQQE EILRRQQEEE RKRREEEELA
RRKQEEALRR QREQEIALRR QREEEERQQQ EEALRRLEER RREEEERRKQ EELLRKQEEE
AAKWAREEEE AQRRLEENRL RMEEEAARLR HEEEERKRKE LEVQRQKELM RQRQQQQEAL
RRLQQQQQQQ QLAQMKLPSS STWGQQSNTT ACQSQATLSL AEIQKLEEER ERQLREEQRR
QQRELMKALQ QQQQQQQQKL SGWGNVSKPS GTTKSLLEIQ QEEARQMQKQ QQQQQQHQQP
NRARNNTHSN LHTSIGNSVW GSINTGPPNQ WASDLVSSIW SNADTKNSNM GFWDDAVKEV
GPRNSTNKNK NNASLSKSVG VSNRQNKKVE EEEKLLKLFQ GVNKAQDGFT QWCEQMLHAL
NTANNLDVPT FVSFLKEVES PYEVHDYIRA YLGDTSEAKE FAKQFLERRA KQKANQQRQQ
QQLPQQQQQQ PPQQPPQQPQ QQDSVWGMNH STLHSVFQTN QSNNQQSNFE AVQSGKKKKK
QKMVRADPSL LGFSVNASSE RLNMGEIETL DDY*
mutated AA sequence MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPGWR
EHMERRRRFE FDFRDRDDER GYRRVRSGSG SVDDDRDSLP EWCLEDAEEE MGTFDSSGAF
LSLKKVQKEP IPEEQEMDFR PVDEGEECSD SEGSHNEEAK EPDKTNKKEG EKTDRVGVEA
SEETPQTSSS SARPGTPSDH QSQEASQFER KDEPKTEQTE KAEEETRMEN SLPAKVPSRG
DEMVADVQQP LSQIPSDTAS PLLILPPPVP NPSPTLRPVE TPVVGAPGMG SVSTEPDDEE
GLKHLEQQAE KMVAYLQDSA LDDERLASKL QEHRAKGVSI PLMHEAMQKW YYKDPQGEIQ
GPFNNQEMAE WFQAGYFTMS LLVKRACDES FQPLGDIMKM WGRVPFSPGP APPPHMGELD
QERLTRQQEL TALYQMQHLQ YQQFLIQQQY AQVLAQQQKA ALSSQQQQQL ALLLQQFQTL
KMRISDQNII PSVTRSVSVP DTGSIWELQP TASQPTVWEG GSVWDLPLDT TTPGPALEQL
QQLEKAKAAK LEQERREAEM RAKREEEERK RQEELRRQQE EILRRQQEEE RKRREEEELA
RRKQEEALRR QREQEIALRR QREEEERQQQ EEALRRLEER RREEEERRKQ EELLRKQEEE
AAKWAREEEE AQRRLEENRL RMEEEAARLR HEEEERKRKE LEVQRQKELM RQRQQQQEAL
RRLQQQQQQQ QLAQMKLPSS STWGQQSNTT ACQSQATLSL AEIQKLEEER ERQLREEQRR
QQRELMKALQ QQQQQQQQKL SGWGNVSKPS GTTKSLLEIQ QEEARQMQKQ QQQQQQHQQP
NRARNNTHSN LHTSIGNSVW GSINTGPPNQ WASDLVSSIW SNADTKNSNM GFWDDAVKEV
GPRNSTNKNK NNASLSKSVG VSNRQNKKVE EEEKLLKLFQ GVNKAQDGFT QWCEQMLHAL
NTANNLDVPT FVSFLKEVES PYEVHDYIRA YLGDTSEAKE FAKQFLERRA KQKANQQRQQ
QQLPQQQQQQ PPQQPPQQPQ QQDSVWGMNH STLHSVFQTN QSNNQQSNFE AVQSGKKKKK
QKMVRADPSL LGFSVNASSE RLNMGEIETL DDY*
speed 1.12 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project