Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999681656403 (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) chr9:136559460C>TN/A show variant in all transcripts   IGV
HGNC symbol SARDH
Ensembl transcript ID ENST00000371872
Genbank transcript ID NM_007101
UniProt peptide Q9UL12
alteration type single base exchange
alteration region CDS
DNA changes c.1841G>A
cDNA.2099G>A
g.45618G>A
AA changes R614H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 614
frameshift no
known variant Reference ID: rs2073817
databasehomozygous (T/T)heterozygousallele carriers
1000G33411881522
ExAC128746035890
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9760.015
1.6250.02
(flanking)0.540.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased45621wt: 0.40 / mu: 0.61wt: GTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACCTGA
mu: GTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACCTGA		 gtgg|GGGC
Donor gained456140.44mu: TCAACCACCATGGGG AACC|acca
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      614GSTVYTCMLNHRGGTESDLTVSRL
mutated  not conserved    614GSTVYTCMLNHHGGTESDLTVSR
Ptroglodytes  all identical  ENSPTRG00000021522  614GSTVYTCMLNHRGGTESDLTVSR
Mmulatta  all identical  ENSMMUG00000017210  614GSTVYTCMLNHRGGTESDLTVSR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000009614  615GSTVYTCMLNQRGGTESDLTVSR
Ggallus  all identical  ENSGALG00000002855  602TCMLNKRGGVESDLTVSR
Trubripes  not conserved  ENSTRUG00000008684  42GSTVYTCMLNKSGGAEADLT
Drerio  all identical  ENSDARG00000058102  611GSTVYTCMLNQRGGVESDLTVSR
Dmelanogaster  not conserved  FBgn0034276  584SKTVYTCALNDAGGVEADVTISR
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023098  498GNLNKQRLV--KRGTKSWETDSS
protein features
start (aa)end (aa)featuredetails 
777777MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
884884MOD_RESN6-acetyllysine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2757 / 2757
position (AA) of stopcodon in wt / mu AA sequence 919 / 919
position of stopcodon in wt / mu cDNA 3015 / 3015
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 259 / 259
chromosome 9
strand -1
last intron/exon boundary 2890
theoretical NMD boundary in CDS 2581
length of CDS 2757
coding sequence (CDS) position 1841
cDNA position
(for ins/del: last normal base / first normal base)		 2099
gDNA position
(for ins/del: last normal base / first normal base)		 45618
chromosomal position
(for ins/del: last normal base / first normal base)		 136559460
original gDNA sequence snippet CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC
altered gDNA sequence snippet CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC
original cDNA sequence snippet CACGTGCATGCTCAACCACCGTGGGGGCACCGAGAGTGACC
altered cDNA sequence snippet CACGTGCATGCTCAACCACCATGGGGGCACCGAGAGTGACC
wildtype AA sequence MASLSRALRV AAAHPRQSPT RGMGPCNLSS AAGPTAEKSV PYQRTLKEGQ GTSVVAQGPS
RPLPSTANVV VIGGGSLGCQ TLYHLAKLGM SGAVLLERER LTSGTTWHTA GLLWQLRPSD
VEVELLAHTR RVVSRELEEE TGLHTGWIQN GGLFIASNRQ RLDEYKRLMS LGKAYGVESH
VLSPAETKTL YPLMNVDDLY GTLYVPHDGT MDPAGTCTTL ARAASARGAQ VIENCPVTGI
RVWTDDFGVR RVAGVETQHG SIQTPCVVNC AGVWASAVGR MAGVKVPLVA MHHAYVVTER
IEGIQNMPNV RDHDASVYLR LQGDALSVGG YEANPIFWEE VSDKFAFGLF DLDWEVFTQH
IEGAINRVPV LEKTGIKSTV CGPESFTPDH KPLMGEAPEL RGFFLGCGFN SAGMMLGGGC
GQELAHWIIH GRPEKDMHGY DIRRFHHSLT DHPRWIRERS HESYAKNYSV VFPHDEPLAG
RNMRRDPLHE ELLGQGCVFQ ERHGWERPGW FHPRGPAPVL EYDYYGAYGS RAHEDYAYRR
LLADEYTFAF PPHHDTIKKE CLACRGAAAV FDMSYFGKFY LVGLDARKAA DWLFSADVSR
PPGSTVYTCM LNHRGGTESD LTVSRLAPSH QASPLAPAFE GDGYYLAMGG AVAQHNWSHI
TTVLQDQKSQ CQLIDSSEDL GMISIQGPAS RAILQEVLDA DLSNEAFPFS THKLLRAAGH
LVRAMRLSFV GELGWELHIP KASCVPVYRA VMAAGAKHGL INAGYRAIDS LSIEKGYRHW
HADLRPDDSP LEAGLAFTCK LKSPVPFLGR EALEQQRAAG LRRRLVCFTM EDKVPMFGLE
AIWRNGQVVG HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ
AHLKSPFDPN NKRVKGIY*
mutated AA sequence MASLSRALRV AAAHPRQSPT RGMGPCNLSS AAGPTAEKSV PYQRTLKEGQ GTSVVAQGPS
RPLPSTANVV VIGGGSLGCQ TLYHLAKLGM SGAVLLERER LTSGTTWHTA GLLWQLRPSD
VEVELLAHTR RVVSRELEEE TGLHTGWIQN GGLFIASNRQ RLDEYKRLMS LGKAYGVESH
VLSPAETKTL YPLMNVDDLY GTLYVPHDGT MDPAGTCTTL ARAASARGAQ VIENCPVTGI
RVWTDDFGVR RVAGVETQHG SIQTPCVVNC AGVWASAVGR MAGVKVPLVA MHHAYVVTER
IEGIQNMPNV RDHDASVYLR LQGDALSVGG YEANPIFWEE VSDKFAFGLF DLDWEVFTQH
IEGAINRVPV LEKTGIKSTV CGPESFTPDH KPLMGEAPEL RGFFLGCGFN SAGMMLGGGC
GQELAHWIIH GRPEKDMHGY DIRRFHHSLT DHPRWIRERS HESYAKNYSV VFPHDEPLAG
RNMRRDPLHE ELLGQGCVFQ ERHGWERPGW FHPRGPAPVL EYDYYGAYGS RAHEDYAYRR
LLADEYTFAF PPHHDTIKKE CLACRGAAAV FDMSYFGKFY LVGLDARKAA DWLFSADVSR
PPGSTVYTCM LNHHGGTESD LTVSRLAPSH QASPLAPAFE GDGYYLAMGG AVAQHNWSHI
TTVLQDQKSQ CQLIDSSEDL GMISIQGPAS RAILQEVLDA DLSNEAFPFS THKLLRAAGH
LVRAMRLSFV GELGWELHIP KASCVPVYRA VMAAGAKHGL INAGYRAIDS LSIEKGYRHW
HADLRPDDSP LEAGLAFTCK LKSPVPFLGR EALEQQRAAG LRRRLVCFTM EDKVPMFGLE
AIWRNGQVVG HVRRADFGFA IDKTIAYGYI HDPSGGPVSL DFVKSGDYAL ERMGVTYGAQ
AHLKSPFDPN NKRVKGIY*
speed 0.99 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