Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999964 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:50582626A>GN/A show variant in all transcripts   IGV
HGNC symbol MOV10L1
Ensembl transcript ID ENST00000540615
Genbank transcript ID NM_001164105
UniProt peptide Q9BXT6
alteration type single base exchange
alteration region CDS
DNA changes c.2399A>G
cDNA.2619A>G
g.54319A>G
AA changes Q800R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 800
frameshift no
known variant Reference ID: rs2272837
databasehomozygous (G/G)heterozygousallele carriers
1000G3619681329
ExAC62392028926528
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6450
0.0170
(flanking)-0.330
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased54313wt: 0.27 / mu: 0.93wt: CAAGGTGCTACAGCC
mu: CAAGGTGCTACGGCC		 AGGT|gcta
distance from splice site 47
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      800VCLRLHESKVLQPATMVRVNATCR
mutated  all conserved    800VCLRLHESKVLRPATMVRVNATC
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000009120  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000015365  874VCLRLHESKVLKPAAMVRVNATC
Ggallus  all conserved  ENSGALG00000008570  827ICLRLHQSNLLKPGAMVRVNATC
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000059037  562ICMRLHHSGFLHSASLARVNATC
Dmelanogaster  not conserved  FBgn0041164  859VTKRLIDSKALLQGDFIRLVSYN
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000022273  729VCLRLHQSNQLEPGSMVRVNATC
protein features
start (aa)end (aa)featuredetails 
886889MOTIFDEAG box.might get lost (downstream of altered splice site)
10631063CONFLICTI -> V (in Ref. 2; BAA90895).might get lost (downstream of altered splice site)
10961096CONFLICTF -> L (in Ref. 2; BAA90895).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3498 / 3498
position (AA) of stopcodon in wt / mu AA sequence 1166 / 1166
position of stopcodon in wt / mu cDNA 3718 / 3718
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 221 / 221
chromosome 22
strand 1
last intron/exon boundary 3623
theoretical NMD boundary in CDS 3352
length of CDS 3498
coding sequence (CDS) position 2399
cDNA position
(for ins/del: last normal base / first normal base)		 2619
gDNA position
(for ins/del: last normal base / first normal base)		 54319
chromosomal position
(for ins/del: last normal base / first normal base)		 50582626
original gDNA sequence snippet GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG
altered gDNA sequence snippet GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG
original cDNA sequence snippet GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG
altered cDNA sequence snippet GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG
wildtype AA sequence MSFLPVRSVI GGGDTKLKTV RGVVTRYCSD YGMIDDMIYF SSDAVTSRVL LNVGQEVIAV
VEENKVSNGL KAIRVEAVSD KWEDDSRNHG SPSDCGPRVL IGCVTSLVEG AGCISQTTYF
SLESVCEGFE PCKGDWVEAE YRIRPGTWSS EATSVKPLRY KRVDKVCISS LCGRNGVLEE
SIFFTLDSLK LPDGYTPRRG DVVNAVVVES SQSCYVWRAL CMTLVKRRDA APVHEATHFY
GTILLKNKGD IEVTQVTHFG TLKEGRSKTM VIWIENKGDI PQNLVSCKLA GWDKSKQFRF
QMLDKDQMCP VVSFVSVPEK ENSSDENINS LNSHTKNKTS QMSESSLVNN RGISPGDCTC
KGENGEKDNI LSRKQMTEPE PGGLVPPGGK TFIVVICDGK NPGRCKELLL LCFSDFLIGR
YLEVNVISGE ESLIAAREPF SWKKLKSSQA LTSAKTTVVV TAQKRNSRRQ LPSFLPQYPI
PDRLRKCVEQ KIDILTFQPL LAELLNMSNY KEKFSTLLWL EEIYAEMELK EYNMSGIILR
RNGDLLVLEV PGLAEGRPSL YAGDKLILKT QEYNGHAIEY ISYVTEIHEE DVTLKINPEF
EQAYNFEPMD VEFTYNRTTS RRCHFALEHV IHLGVKVLFP EEIILQSPQV TGNWNHAQDT
KSSGQSTSKK NRKTMTDQAE HGTEERRVGD KDLPVLAPFT AEMSDWVDEI QTPKARKMEF
FNPVLNENQK LAVKRILSGD CRPLPYILFG PPGTGKTVTI IEAVLQVHFA LPDSRILVCA
PSNSAADLVC LRLHESKVLQ PATMVRVNAT CRFEEIVIDA VKPYCRDGED IWKASRFRII
ITTCSSSGLF YQIGVRVGHF THVFVDEAGQ ASEPECLIPL GLMSDISGQI VLAGDPMQLG
PVIKSRLAMA YGLNVSFLER LMSRPAYQRD ENAFGACGAH NPLLVTKLVK NYRSHEALLM
LPSRLFYHRE LEVCADPTVV TSLLGWEKLP KKGFPLIFHG VRGSEAREGK SPSWFNPAEA
VQVLRYCCLL AHSISSQVSA SDIGVITPYR KQVEKIRILL RNVDLMDIKV GSVEEFQGQE
YLVIIISTVR SNEDRFEDDR YFLGFLSNSK RFNVAITRPK ALLIVLGNPH VLVRLWRGGG
RPLLPSGARI HRTREASGAQ LICSG*
mutated AA sequence MSFLPVRSVI GGGDTKLKTV RGVVTRYCSD YGMIDDMIYF SSDAVTSRVL LNVGQEVIAV
VEENKVSNGL KAIRVEAVSD KWEDDSRNHG SPSDCGPRVL IGCVTSLVEG AGCISQTTYF
SLESVCEGFE PCKGDWVEAE YRIRPGTWSS EATSVKPLRY KRVDKVCISS LCGRNGVLEE
SIFFTLDSLK LPDGYTPRRG DVVNAVVVES SQSCYVWRAL CMTLVKRRDA APVHEATHFY
GTILLKNKGD IEVTQVTHFG TLKEGRSKTM VIWIENKGDI PQNLVSCKLA GWDKSKQFRF
QMLDKDQMCP VVSFVSVPEK ENSSDENINS LNSHTKNKTS QMSESSLVNN RGISPGDCTC
KGENGEKDNI LSRKQMTEPE PGGLVPPGGK TFIVVICDGK NPGRCKELLL LCFSDFLIGR
YLEVNVISGE ESLIAAREPF SWKKLKSSQA LTSAKTTVVV TAQKRNSRRQ LPSFLPQYPI
PDRLRKCVEQ KIDILTFQPL LAELLNMSNY KEKFSTLLWL EEIYAEMELK EYNMSGIILR
RNGDLLVLEV PGLAEGRPSL YAGDKLILKT QEYNGHAIEY ISYVTEIHEE DVTLKINPEF
EQAYNFEPMD VEFTYNRTTS RRCHFALEHV IHLGVKVLFP EEIILQSPQV TGNWNHAQDT
KSSGQSTSKK NRKTMTDQAE HGTEERRVGD KDLPVLAPFT AEMSDWVDEI QTPKARKMEF
FNPVLNENQK LAVKRILSGD CRPLPYILFG PPGTGKTVTI IEAVLQVHFA LPDSRILVCA
PSNSAADLVC LRLHESKVLR PATMVRVNAT CRFEEIVIDA VKPYCRDGED IWKASRFRII
ITTCSSSGLF YQIGVRVGHF THVFVDEAGQ ASEPECLIPL GLMSDISGQI VLAGDPMQLG
PVIKSRLAMA YGLNVSFLER LMSRPAYQRD ENAFGACGAH NPLLVTKLVK NYRSHEALLM
LPSRLFYHRE LEVCADPTVV TSLLGWEKLP KKGFPLIFHG VRGSEAREGK SPSWFNPAEA
VQVLRYCCLL AHSISSQVSA SDIGVITPYR KQVEKIRILL RNVDLMDIKV GSVEEFQGQE
YLVIIISTVR SNEDRFEDDR YFLGFLSNSK RFNVAITRPK ALLIVLGNPH VLVRLWRGGG
RPLLPSGARI HRTREASGAQ LICSG*
speed 0.74 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