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MutationTaster - study a chromosomal position

MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000282849
MT speed 1.87 s - this script 6.848895 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ADAMTS18polymorphism_automatic0.00290772368772696simple_aaeaffectedS1080Rsingle base exchangers35478105show file

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Prediction

polymorphism

Model: simple_aae, prob: 0.997092276312273 (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) chr16:77325325G>TN/A show variant in all transcripts   IGV
HGNC symbol ADAMTS18
Ensembl transcript ID ENST00000282849
Genbank transcript ID NM_199355
UniProt peptide Q8TE60
alteration type single base exchange
alteration region CDS
DNA changes c.3240C>A
cDNA.3659C>A
g.143687C>A
AA changes S1080R Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1080
frameshift no
known variant Reference ID: rs35478105
databasehomozygous (T/T)heterozygousallele carriers
1000G222697919
ExAC100571265322710
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.2771
-1.1720.281
(flanking)1.8370.957
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 increased143687wt: 0.9985 / mu: 0.9990 (marginal change - not scored)wt: TGCAGCGAGAAGGGC
mu: TGCAGAGAGAAGGGC
 CAGC|gaga
Donor increased143684wt: 0.29 / mu: 0.37wt: AAGTGCAGCGAGAAG
mu: AAGTGCAGAGAGAAG
 GTGC|agcg
Donor increased143682wt: 0.43 / mu: 0.98wt: TGAAGTGCAGCGAGA
mu: TGAAGTGCAGAGAGA
 AAGT|gcag
distance from splice site 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1080GLGVRKREMKCSEKGFQGKLITFP
mutated  not conserved    1080GLGVRKREMKCREKGFQGKLITF
Ptroglodytes  all identical  ENSPTRG00000008372  1080GLGVRKREMKCSEKGFQGKLITF
Mmulatta  all identical  ENSMMUG00000000824  1080GLGVRKREIKCSEKGFQGKLITF
Fcatus  all identical  ENSFCAG00000010408  1020GLGVRKREMKCSEKAFQGKLITF
Mmusculus  not conserved  ENSMUSG00000053399  1080VEKTLQGKLITF
Ggallus  not conserved  ENSGALG00000005347  1066GPAVRKRELKCGEKSIHGKLITF
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000001999  1084GAGVRRRELHCGEKDSQGGYTEF
Dmelanogaster  not conserved  FBgn0029791  922GGGVQHREPICQENG-KALGDTL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10521116DOMAINTSP type-1 4.lost
11231178DOMAINTSP type-1 5.might get lost (downstream of altered splice site)
11841221DOMAINPLAC.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3666 / 3666
position (AA) of stopcodon in wt / mu AA sequence 1222 / 1222
position of stopcodon in wt / mu cDNA 4085 / 4085
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 420 / 420
chromosome 16
strand -1
last intron/exon boundary 3970
theoretical NMD boundary in CDS 3500
length of CDS 3666
coding sequence (CDS) position 3240
cDNA position
(for ins/del: last normal base / first normal base)
3659
gDNA position
(for ins/del: last normal base / first normal base)
143687
chromosomal position
(for ins/del: last normal base / first normal base)
77325325
original gDNA sequence snippet AAGAGGGAGATGAAGTGCAGCGAGAAGGGCTTCCAGGGAAA
altered gDNA sequence snippet AAGAGGGAGATGAAGTGCAGAGAGAAGGGCTTCCAGGGAAA
original cDNA sequence snippet AAGAGGGAGATGAAGTGCAGCGAGAAGGGCTTCCAGGGAAA
altered cDNA sequence snippet AAGAGGGAGATGAAGTGCAGAGAGAAGGGCTTCCAGGGAAA
wildtype AA sequence MECALLLACA FPAAGSGPPR GLAGLGRVAK ALQLCCLCCA SVAAALASDS SSGASGLNDD
YVFVTPVEVD SAGSYISHDI LHNGRKKRSA QNARSSLHYR FSAFGQELHL ELKPSAILSS
HFIVQVLGKD GASETQKPEV QQCFYQGFIR NDSSSSVAVS TCAGLSGLIR TRKNEFLISP
LPQLLAQEHN YSSPAGHHPH VLYKRTAEEK IQRYRGYPGS GRNYPGYSPS HIPHASQSRE
TEYHHRRLQK QHFCGRRKKY APKPPTEDTY LRFDEYGSSG RPRRSAGKSQ KGLNVETLVV
ADKKMVEKHG KGNVTTYILT VMNMVSGLFK DGTIGSDINV VVVSLILLEQ EPGGLLINHH
ADQSLNSFCQ WQSALIGKNG KRHDHAILLT GFDICSWKNE PCDTLGFAPI SGMCSKYRSC
TINEDTGLGL AFTIAHESGH NFGMIHDGEG NPCRKAEGNI MSPTLTGNNG VFSWSSCSRQ
YLKKFLSTPQ AGCLVDEPKQ AGQYKYPDKL PGQIYDADTQ CKWQFGAKAK LCSLGFVKDI
CKSLWCHRVG HRCETKFMPA AEGTVCGLSM WCRQGQCVKF GELGPRPIHG QWSAWSKWSE
CSRTCGGGVK FQERHCNNPK PQYGGLFCPG SSRIYQLCNI NPCNENSLDF RAQQCAEYNS
KPFRGWFYQW KPYTKVEEED RCKLYCKAEN FEFFFAMSGK VKDGTPCSPN KNDVCIDGVC
ELVGCDHELG SKAVSDACGV CKGDNSTCKF YKGLYLNQHK ANEYYPVVLI PAGARSIEIQ
ELQVSSSYLA VRSLSQKYYL TGGWSIDWPG EFPFAGTTFE YQRSFNRPER LYAPGPTNET
LVFEILMQGK NPGIAWKYAL PKVMNGTPPA TKRPAYTWSI VQSECSVSCG GGYINVKAIC
LRDQNTQVNS SFCSAKTKPV TEPKICNAFS CPAYWMPGEW STCSKACAGG QQSRKIQCVQ
KKPFQKEEAV LHSLCPVSTP TQVQACNSHA CPPQWSLGPW SQCSKTCGRG VRKRELLCKG
SAAETLPESQ CTSLPRPELQ EGCVLGRCPK NSRLQWVASS WSECSATCGL GVRKREMKCS
EKGFQGKLIT FPERRCRNIK KPNLDLEETC NRRACPAHPV YNMVAGWYSL PWQQCTVTCG
GGVQTRSVHC VQQGRPSSSC LLHQKPPVLR ACNTNFCPAP EKREDPSCVD FFNWCHLVPQ
HGVCNHKFYG KQCCKSCTRK I*
mutated AA sequence MECALLLACA FPAAGSGPPR GLAGLGRVAK ALQLCCLCCA SVAAALASDS SSGASGLNDD
YVFVTPVEVD SAGSYISHDI LHNGRKKRSA QNARSSLHYR FSAFGQELHL ELKPSAILSS
HFIVQVLGKD GASETQKPEV QQCFYQGFIR NDSSSSVAVS TCAGLSGLIR TRKNEFLISP
LPQLLAQEHN YSSPAGHHPH VLYKRTAEEK IQRYRGYPGS GRNYPGYSPS HIPHASQSRE
TEYHHRRLQK QHFCGRRKKY APKPPTEDTY LRFDEYGSSG RPRRSAGKSQ KGLNVETLVV
ADKKMVEKHG KGNVTTYILT VMNMVSGLFK DGTIGSDINV VVVSLILLEQ EPGGLLINHH
ADQSLNSFCQ WQSALIGKNG KRHDHAILLT GFDICSWKNE PCDTLGFAPI SGMCSKYRSC
TINEDTGLGL AFTIAHESGH NFGMIHDGEG NPCRKAEGNI MSPTLTGNNG VFSWSSCSRQ
YLKKFLSTPQ AGCLVDEPKQ AGQYKYPDKL PGQIYDADTQ CKWQFGAKAK LCSLGFVKDI
CKSLWCHRVG HRCETKFMPA AEGTVCGLSM WCRQGQCVKF GELGPRPIHG QWSAWSKWSE
CSRTCGGGVK FQERHCNNPK PQYGGLFCPG SSRIYQLCNI NPCNENSLDF RAQQCAEYNS
KPFRGWFYQW KPYTKVEEED RCKLYCKAEN FEFFFAMSGK VKDGTPCSPN KNDVCIDGVC
ELVGCDHELG SKAVSDACGV CKGDNSTCKF YKGLYLNQHK ANEYYPVVLI PAGARSIEIQ
ELQVSSSYLA VRSLSQKYYL TGGWSIDWPG EFPFAGTTFE YQRSFNRPER LYAPGPTNET
LVFEILMQGK NPGIAWKYAL PKVMNGTPPA TKRPAYTWSI VQSECSVSCG GGYINVKAIC
LRDQNTQVNS SFCSAKTKPV TEPKICNAFS CPAYWMPGEW STCSKACAGG QQSRKIQCVQ
KKPFQKEEAV LHSLCPVSTP TQVQACNSHA CPPQWSLGPW SQCSKTCGRG VRKRELLCKG
SAAETLPESQ CTSLPRPELQ EGCVLGRCPK NSRLQWVASS WSECSATCGL GVRKREMKCR
EKGFQGKLIT FPERRCRNIK KPNLDLEETC NRRACPAHPV YNMVAGWYSL PWQQCTVTCG
GGVQTRSVHC VQQGRPSSSC LLHQKPPVLR ACNTNFCPAP EKREDPSCVD FFNWCHLVPQ
HGVCNHKFYG KQCCKSCTRK I*
speed 1.87 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
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