Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999851 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:97087707T>CN/A show variant in all transcripts   IGV
HGNC symbol NUTM2F
Ensembl transcript ID ENST00000253262
Genbank transcript ID NM_017561
UniProt peptide A1L443
alteration type single base exchange
alteration region CDS
DNA changes c.526A>G
cDNA.547A>G
g.3220A>G
AA changes R176G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 176
frameshift no
known variant Reference ID: rs190275133
databasehomozygous (C/C)heterozygousallele carriers
1000G19232232146
ExAC11463177
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1730.003
-0.6310
(flanking)-0.3230
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased3210wt: 0.8014 / mu: 0.8190 (marginal change - not scored)wt: GTGGCCCCCATCGTGTCCCCAGGGAACGCTAGGCCATGGCC
mu: GTGGCCCCCATCGTGTCCCCAGGGAACGCTGGGCCATGGCC		 ccca|GGGA
distance from splice site 188
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      176QVAPIVSPGNARPWPQGAHGEGSL
mutated  not conserved    176QVAPIVSPGNAGPWPQ
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000020164  11PIVPPGNTGPWPEGAHGEGS
Fcatus  not conserved  ENSFCAG00000010760  92RLAPMVPPGTAGPQPPAAAREGS
Mmusculus  not conserved  ENSMUSG00000071909  191QLVPVKSPVNSAQPPKGAY
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2271 / 2271
position (AA) of stopcodon in wt / mu AA sequence 757 / 757
position of stopcodon in wt / mu cDNA 2292 / 2292
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 22 / 22
chromosome 9
strand -1
last intron/exon boundary 1507
theoretical NMD boundary in CDS 1435
length of CDS 2271
coding sequence (CDS) position 526
cDNA position
(for ins/del: last normal base / first normal base)		 547
gDNA position
(for ins/del: last normal base / first normal base)		 3220
chromosomal position
(for ins/del: last normal base / first normal base)		 97087707
original gDNA sequence snippet TCGTGTCCCCAGGGAACGCTAGGCCATGGCCACAAGGGGCT
altered gDNA sequence snippet TCGTGTCCCCAGGGAACGCTGGGCCATGGCCACAAGGGGCT
original cDNA sequence snippet TCGTGTCCCCAGGGAACGCTAGGCCATGGCCACAAGGGGCT
altered cDNA sequence snippet TCGTGTCCCCAGGGAACGCTGGGCCATGGCCACAAGGGGCT
wildtype AA sequence MASNGAYPVL GPGVTVNPGT SLSVFTALPF ATPAPGPAHR PPLVTAVVPP AGPLVLSAFP
STPLVAGQDG RGPSGAGASN VFVQMRTEVG PVKPPQAQTL ILTQAPLVWQ APGTLCGGVM
CPPPLLLAAA PGVPVTSAQV VGGTQACEGG WSHGLPLPPP PPAAQVAPIV SPGNARPWPQ
GAHGEGSLAP SQAKARPDDS CKPKSVYENF RLWQHYKPLA RRHLPQSPDT EALSCFLIPV
LRSLARRKPT MTLEEGLWQA MREWQHTSNF DRMIFYEMAE KFLEFEAEEE MQIQKSQWMK
GPQSLPPPAP PRLEPRGPPA PEVVKQPVYL PSKDGPKAPT ACLPPPRPQR PAETKAHLPP
PRPQRPAETN AHLPPPRPQR PAETKVPEEI PPEVVQEYVD IMEELLGSHP GDTGEPEGQR
EKGKVEQPQE EDGITSDPGL LSYIDKLCSQ EDFVTKVEAV IHPRFLEELL SPDPQMDFLA
LSQELEQEEG LTLAQLVEKR LLSLKEKGCG RAAPRHGTAR LDSSPSEFAA GQEAAREVPD
PQQRVSVETS PPQTAAQDPQ GQGRVRTGMA RSEDPAVLLG CQDSPRLKAV RPTSPPQDHR
PTCPGLGTKD ALGLPGESPV KESHGLAKGS SEETELPGMV YVVGSHHRLR PWRLSQSPVP
SSGLLSPGGR GPQGALQSPS AQKRGLSPSP SPASKSKKRP LFGSPSPAEK TPHPGPGLRV
SGEQSLAWGL GGPSQSQKRK GDPLASRRKK KRHCSQ*
mutated AA sequence MASNGAYPVL GPGVTVNPGT SLSVFTALPF ATPAPGPAHR PPLVTAVVPP AGPLVLSAFP
STPLVAGQDG RGPSGAGASN VFVQMRTEVG PVKPPQAQTL ILTQAPLVWQ APGTLCGGVM
CPPPLLLAAA PGVPVTSAQV VGGTQACEGG WSHGLPLPPP PPAAQVAPIV SPGNAGPWPQ
GAHGEGSLAP SQAKARPDDS CKPKSVYENF RLWQHYKPLA RRHLPQSPDT EALSCFLIPV
LRSLARRKPT MTLEEGLWQA MREWQHTSNF DRMIFYEMAE KFLEFEAEEE MQIQKSQWMK
GPQSLPPPAP PRLEPRGPPA PEVVKQPVYL PSKDGPKAPT ACLPPPRPQR PAETKAHLPP
PRPQRPAETN AHLPPPRPQR PAETKVPEEI PPEVVQEYVD IMEELLGSHP GDTGEPEGQR
EKGKVEQPQE EDGITSDPGL LSYIDKLCSQ EDFVTKVEAV IHPRFLEELL SPDPQMDFLA
LSQELEQEEG LTLAQLVEKR LLSLKEKGCG RAAPRHGTAR LDSSPSEFAA GQEAAREVPD
PQQRVSVETS PPQTAAQDPQ GQGRVRTGMA RSEDPAVLLG CQDSPRLKAV RPTSPPQDHR
PTCPGLGTKD ALGLPGESPV KESHGLAKGS SEETELPGMV YVVGSHHRLR PWRLSQSPVP
SSGLLSPGGR GPQGALQSPS AQKRGLSPSP SPASKSKKRP LFGSPSPAEK TPHPGPGLRV
SGEQSLAWGL GGPSQSQKRK GDPLASRRKK KRHCSQ*
speed 1.04 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