Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.995413947480428 (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) chr9:127818276C>TN/A show variant in all transcripts   IGV
HGNC symbol SCAI
Ensembl transcript ID ENST00000373549
Genbank transcript ID NM_173690
UniProt peptide Q8N9R8
alteration type single base exchange
alteration region CDS
DNA changes c.178G>A
cDNA.237G>A
g.87510G>A
AA changes A60T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 60
frameshift no
known variant Reference ID: rs589292
databasehomozygous (T/T)heterozygousallele carriers
1000G1608401000
ExAC41122199726109
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0021
2.6321
(flanking)1.151
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased87513wt: 0.52 / mu: 0.59wt: TTGCTCTTAAAGAAA
mu: TTACTCTTAAAGAAA		 GCTC|ttaa
Donor increased87501wt: 0.73 / mu: 0.84wt: ACAGGACTGAATTTG
mu: ACAGGACTGAATTTA		 AGGA|ctga
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      60RYQHFTEKTEFALKEIMSSGGAED
mutated  not conserved    60RYQHFTEKTEFTLKEIMSSGGAE
Ptroglodytes  all identical  ENSPTRG00000021366  59ALKEIMSSGGAE
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000035236  60-------RTEFTLKETMSSGGAE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000060865  n/a
Dmelanogaster  no alignment  FBgn0035677  n/a
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000016827  n/a
protein features
start (aa)end (aa)featuredetails 
1212REGIONNecessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).lost
6464MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
71173REGIONRequired for interaction with MKL1 (By similarity).might get lost (downstream of altered splice site)
432432CONFLICTI -> F (in Ref. 1; BAC05217).might get lost (downstream of altered splice site)
472492TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
553553CONFLICTM -> T (in Ref. 1; BAC05217).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1890 / 1890
position (AA) of stopcodon in wt / mu AA sequence 630 / 630
position of stopcodon in wt / mu cDNA 1949 / 1949
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 60 / 60
chromosome 9
strand -1
last intron/exon boundary 1803
theoretical NMD boundary in CDS 1693
length of CDS 1890
coding sequence (CDS) position 178
cDNA position
(for ins/del: last normal base / first normal base)		 237
gDNA position
(for ins/del: last normal base / first normal base)		 87510
chromosomal position
(for ins/del: last normal base / first normal base)		 127818276
original gDNA sequence snippet TTTCTTACAGGACTGAATTTGCTCTTAAAGAAATCATGTCC
altered gDNA sequence snippet TTTCTTACAGGACTGAATTTACTCTTAAAGAAATCATGTCC
original cDNA sequence snippet TCACTGAAAAGACTGAATTTGCTCTTAAAGAAATCATGTCC
altered cDNA sequence snippet TCACTGAAAAGACTGAATTTACTCTTAAAGAAATCATGTCC
wildtype AA sequence MVRGARQPQQ PRSRLAPRLT GTVEKPPRKR RSSIRGSGDS SHSQSQGERY QHFTEKTEFA
LKEIMSSGGA EDDIPQGERK TVTDFCYLLD KSKQLFNGLR DLPQYGQKQW QSYFGRTFDV
YTKLWKFQQQ HRQVLDNRYG LKRWQIGEIA SKIGQLYYHY YLRTSETSYL NEAFSFYSAI
RQRSYYSQVN KEDRPELVVK KLRYYARFIV VCLLLNKMDV VKDLVKELSD EIEDYTHRFN
TEDQVEWNLV LQEVAAFIEA DPVMVLNDDN TIVITSNRLA ETGAPLLEQG MIVGQLSLAD
ALIIGNCNNQ VKFSELTVDM FRMLQALERE PMNLASQMNK PGMQESADKP TRRENPHKYL
LYKPTFSQLY TFLAASFKEL PANSVLLIYL SATGVFPTGR SDSEGPYDFG GVLTNSNRDI
INGDAIHKRN QSHKEMHCLH PGDLYPFTRK PLFIIVDSSN SVAYKNFTNL FGQPLVCLLS
PTAYPKALQD QSQRGSLFTL FLNNPLMAFL FVSGLSSMRR GLWEKCQEYL RKINRDIAQL
LTHSRSIDQA FLQFFGDEFL RLLLTRFIFC SATMRMHKIF RETRNYPESY PQLPRDETVE
NPHLQKHILE LASILDVRNV FFENTIDDY*
mutated AA sequence MVRGARQPQQ PRSRLAPRLT GTVEKPPRKR RSSIRGSGDS SHSQSQGERY QHFTEKTEFT
LKEIMSSGGA EDDIPQGERK TVTDFCYLLD KSKQLFNGLR DLPQYGQKQW QSYFGRTFDV
YTKLWKFQQQ HRQVLDNRYG LKRWQIGEIA SKIGQLYYHY YLRTSETSYL NEAFSFYSAI
RQRSYYSQVN KEDRPELVVK KLRYYARFIV VCLLLNKMDV VKDLVKELSD EIEDYTHRFN
TEDQVEWNLV LQEVAAFIEA DPVMVLNDDN TIVITSNRLA ETGAPLLEQG MIVGQLSLAD
ALIIGNCNNQ VKFSELTVDM FRMLQALERE PMNLASQMNK PGMQESADKP TRRENPHKYL
LYKPTFSQLY TFLAASFKEL PANSVLLIYL SATGVFPTGR SDSEGPYDFG GVLTNSNRDI
INGDAIHKRN QSHKEMHCLH PGDLYPFTRK PLFIIVDSSN SVAYKNFTNL FGQPLVCLLS
PTAYPKALQD QSQRGSLFTL FLNNPLMAFL FVSGLSSMRR GLWEKCQEYL RKINRDIAQL
LTHSRSIDQA FLQFFGDEFL RLLLTRFIFC SATMRMHKIF RETRNYPESY PQLPRDETVE
NPHLQKHILE LASILDVRNV FFENTIDDY*
speed 1.03 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