Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998347 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:57528503A>GN/A show variant in all transcripts   IGV
HGNC symbol DNAH12
Ensembl transcript ID ENST00000311202
Genbank transcript ID NM_198564
UniProt peptide Q6ZR08
alteration type single base exchange
alteration region CDS
DNA changes c.95T>C
cDNA.273T>C
g.1569T>C
AA changes V32A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 32
frameshift no
known variant Reference ID: rs9311651
databasehomozygous (G/G)heterozygousallele carriers
1000G227630857
ExAC24891472017209
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.150
-0.3960
(flanking)1.2890.006
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 increased1560wt: 0.8132 / mu: 0.8665 (marginal change - not scored)wt: AGAAAACATAGGCGT
mu: AGAAAACATAGGCGC		 AAAA|cata
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      32PPIVHLPENIGVDTPTQSKLLKYR
mutated  not conserved    32PPIVHLPENIGADTPTQSKLLKY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000004881  32SPIVHLPENIGVDTPTQSKLLKY
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11214REGIONStem (By similarity).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1374 / 1374
position (AA) of stopcodon in wt / mu AA sequence 458 / 458
position of stopcodon in wt / mu cDNA 1552 / 1552
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 179 / 179
chromosome 3
strand -1
last intron/exon boundary 1514
theoretical NMD boundary in CDS 1285
length of CDS 1374
coding sequence (CDS) position 95
cDNA position
(for ins/del: last normal base / first normal base)		 273
gDNA position
(for ins/del: last normal base / first normal base)		 1569
chromosomal position
(for ins/del: last normal base / first normal base)		 57528503
original gDNA sequence snippet TCTCCCAGAAAACATAGGCGTTGATACACCAACACAAAGTA
altered gDNA sequence snippet TCTCCCAGAAAACATAGGCGCTGATACACCAACACAAAGTA
original cDNA sequence snippet TCTCCCAGAAAACATAGGCGTTGATACACCAACACAAAGTA
altered cDNA sequence snippet TCTCCCAGAAAACATAGGCGCTGATACACCAACACAAAGTA
wildtype AA sequence MSDANKAAIA AEKEALNLKL PPIVHLPENI GVDTPTQSKL LKYRRSKEQQ QKINQLVIDG
AKRNLDRTLG KRTPLLPPPD YPQTMTSEMK KKGFNYIYMK QCVESSPLVP IQQEWLDHML
RLIPESLKEG KEREELLESL INEVSSDFEN SMKRYLVQSV LVKPPVKSLE DEGGPLPESP
VGLDYSNPWH SSYVQARNQI FSNLHIIHPT MKMLLDLGYT TFADTVLLDF TGIRAKGPID
CESLKTDLSI QTRNAEEKIM NTWYPKVINL FTKKEALEGV KPEKLDAFYS CVSTLMSNQL
KDLLRRTVEG FVKLFDPKDQ QRLPIFKIEL TFDDDKMEFY PTFQDLEDNV LSLVERIAEA
LQNVQTIPSW LSGTSTPVNL DTELPEHVLH WAVDTLKAAV HRNLEGARKH YETYVEKYNW
LLDGTAVENI ETFQTEDHTF DEYTEELDCW VVWEVYF*
mutated AA sequence MSDANKAAIA AEKEALNLKL PPIVHLPENI GADTPTQSKL LKYRRSKEQQ QKINQLVIDG
AKRNLDRTLG KRTPLLPPPD YPQTMTSEMK KKGFNYIYMK QCVESSPLVP IQQEWLDHML
RLIPESLKEG KEREELLESL INEVSSDFEN SMKRYLVQSV LVKPPVKSLE DEGGPLPESP
VGLDYSNPWH SSYVQARNQI FSNLHIIHPT MKMLLDLGYT TFADTVLLDF TGIRAKGPID
CESLKTDLSI QTRNAEEKIM NTWYPKVINL FTKKEALEGV KPEKLDAFYS CVSTLMSNQL
KDLLRRTVEG FVKLFDPKDQ QRLPIFKIEL TFDDDKMEFY PTFQDLEDNV LSLVERIAEA
LQNVQTIPSW LSGTSTPVNL DTELPEHVLH WAVDTLKAAV HRNLEGARKH YETYVEKYNW
LLDGTAVENI ETFQTEDHTF DEYTEELDCW VVWEVYF*
speed 1.25 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