Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999992164863331 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:31491295G>CN/A show variant in all transcripts   IGV
HGNC symbol SMTN
Ensembl transcript ID ENST00000404574
Genbank transcript ID N/A
UniProt peptide P53814
alteration type single base exchange
alteration region CDS
DNA changes c.436G>C
cDNA.526G>C
g.31205G>C
AA changes A146P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 146
frameshift no
known variant Reference ID: rs3205187
databasehomozygous (C/C)heterozygousallele carriers
1000G71110401751
ExAC21860-1095310907
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1220.837
0.5540.843
(flanking)2.2910.854
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 increased31196wt: 0.9522 / mu: 0.9539 (marginal change - not scored)wt: CATGCCCTCTCCCCACCCTGCAGATGGAAGCAGAGCCAGCA
mu: CATGCCCTCTCCCCACCCTGCAGATGGAACCAGAGCCAGCA		 ctgc|AGAT
Acc marginally decreased31198wt: 0.9667 / mu: 0.9607 (marginal change - not scored)wt: TGCCCTCTCCCCACCCTGCAGATGGAAGCAGAGCCAGCAGA
mu: TGCCCTCTCCCCACCCTGCAGATGGAACCAGAGCCAGCAGA		 gcag|ATGG
Acc marginally increased31195wt: 0.2374 / mu: 0.2485 (marginal change - not scored)wt: CCATGCCCTCTCCCCACCCTGCAGATGGAAGCAGAGCCAGC
mu: CCATGCCCTCTCCCCACCCTGCAGATGGAACCAGAGCCAGC		 cctg|CAGA
Donor marginally increased31197wt: 0.2508 / mu: 0.2714 (marginal change - not scored)wt: CCTGCAGATGGAAGC
mu: CCTGCAGATGGAACC		 TGCA|gatg
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      146TGTTRSTSLMEAEPAEPLAAAVEA
mutated  not conserved    146TGTTRSTSLMEPEPAEPLAAAVE
Ptroglodytes  not conserved  ENSPTRG00000014259  394RGGC--SIKMEPEPAEP
Mmulatta  not conserved  ENSMMUG00000004675  544RGGC--SVKMEPEPAEP
Fcatus  not conserved  ENSFCAG00000001312  549RGGCGIK--MEPEPAEPPSAEVE
Mmusculus  no alignment  ENSMUSG00000020439  n/a
Ggallus  no alignment  ENSGALG00000011865  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000074652  n/a
Dmelanogaster  no homologue    
Celegans  not conserved  T15B12.1  60TGQTTFHPYGVQEPLSP
Xtropicalis  no alignment  ENSXETG00000016155  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1317 / 1317
position (AA) of stopcodon in wt / mu AA sequence 439 / 439
position of stopcodon in wt / mu cDNA 1407 / 1407
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 91 / 91
chromosome 22
strand 1
last intron/exon boundary 1428
theoretical NMD boundary in CDS 1287
length of CDS 1317
coding sequence (CDS) position 436
cDNA position
(for ins/del: last normal base / first normal base)		 526
gDNA position
(for ins/del: last normal base / first normal base)		 31205
chromosomal position
(for ins/del: last normal base / first normal base)		 31491295
original gDNA sequence snippet TCCCCACCCTGCAGATGGAAGCAGAGCCAGCAGAGCCTCTC
altered gDNA sequence snippet TCCCCACCCTGCAGATGGAACCAGAGCCAGCAGAGCCTCTC
original cDNA sequence snippet GCAGCACTAGTCTCATGGAAGCAGAGCCAGCAGAGCCTCTC
altered cDNA sequence snippet GCAGCACTAGTCTCATGGAACCAGAGCCAGCAGAGCCTCTC
wildtype AA sequence MPGVPGPGPE LAAALEEQLG RALEELRAVA EAGRVAVTQA AEVAVATVEP VARAAEELRA
ERAALSRRLD ALSRQVEVLS LRLGVPLVSG LEPELEPSEL LLAAADPEAL FQAAEDAGTP
VAHPPAFSTR RRSSTGTTRS TSLMEAEPAE PLAAAVEAAN GAEQTRVNKA PEGRSPLSAE
ELMTIEDEGV LDKMLDQSTD FEERKLIRAA LRELRQRKRD GSGSTMMQTK TFSSSSSSKK
MGSIFDREDQ ASPRAGSLAA LEKRQAEKKK ELMKAQSLPK TSASQARKAM IEKLEKEGAA
GSPGGPRAAV QRSTSFGVPN ANSIKQMLLD WCRAKTRGYE HVDIQNFSSS WSDGMAFCAL
VHNFFPEAFD YGQLSPQNRR QNFEVAFSSA ETHADCPQLL DTEDMVRLRE PDWKCVYTYI
QEFYRCLVQK GLVKTKKS*
mutated AA sequence MPGVPGPGPE LAAALEEQLG RALEELRAVA EAGRVAVTQA AEVAVATVEP VARAAEELRA
ERAALSRRLD ALSRQVEVLS LRLGVPLVSG LEPELEPSEL LLAAADPEAL FQAAEDAGTP
VAHPPAFSTR RRSSTGTTRS TSLMEPEPAE PLAAAVEAAN GAEQTRVNKA PEGRSPLSAE
ELMTIEDEGV LDKMLDQSTD FEERKLIRAA LRELRQRKRD GSGSTMMQTK TFSSSSSSKK
MGSIFDREDQ ASPRAGSLAA LEKRQAEKKK ELMKAQSLPK TSASQARKAM IEKLEKEGAA
GSPGGPRAAV QRSTSFGVPN ANSIKQMLLD WCRAKTRGYE HVDIQNFSSS WSDGMAFCAL
VHNFFPEAFD YGQLSPQNRR QNFEVAFSSA ETHADCPQLL DTEDMVRLRE PDWKCVYTYI
QEFYRCLVQK GLVKTKKS*
speed 1.07 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