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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: ENST00000368801
MT speed 0 s - this script 2.349853 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
HRNRpolymorphism_automatic2.17179607631124e-11simple_aaeaffectedH273Qsingle base exchangers7545406show file

Taster files

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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999978282 (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) chr1:152193286G>TN/A show variant in all transcripts   IGV
HGNC symbol HRNR
Ensembl transcript ID ENST00000368801
Genbank transcript ID NM_001009931
UniProt peptide Q86YZ3
alteration type single base exchange
alteration region CDS
DNA changes c.819C>A
cDNA.895C>A
g.3384C>A
AA changes H273Q Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 273
frameshift no
known variant Reference ID: rs7545406
databasehomozygous (T/T)heterozygousallele carriers
1000G34410441388
ExAC1622431916543
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3350
-2.7180
(flanking)-0.7780
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased3379wt: 0.36 / mu: 0.98wt: GTGAACGACACAGAT
mu: GTGAACGACAAAGAT		 GAAC|gaca
Donor increased3381wt: 0.33 / mu: 0.41wt: GAACGACACAGATCT
mu: GAACGACAAAGATCT		 ACGA|caca
Donor gained33800.98mu: TGAACGACAAAGATC AACG|acaa
distance from splice site 681
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      273SRSGQSSRGERHRSSSGSSSSYGQ
mutated  not conserved    273SRSGQSSRGERQRSSSGSSSSYG
Ptroglodytes  all identical  ENSPTRG00000022618  273SRSGQSSRGERHRSSSGSSSSYG
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000041991  316SYSGQSTGRHQQGFGSSHELESGQSITSA
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 
188278REPEAT2.lost
279369REPEAT3.might get lost (downstream of altered splice site)
370460REPEAT4.might get lost (downstream of altered splice site)
474566REPEAT5.might get lost (downstream of altered splice site)
593683REPEAT6.might get lost (downstream of altered splice site)
685747REPEAT7.might get lost (downstream of altered splice site)
748836REPEAT8.might get lost (downstream of altered splice site)
839875REPEAT9.might get lost (downstream of altered splice site)
876965REPEAT10.might get lost (downstream of altered splice site)
9661004REPEAT11.might get lost (downstream of altered splice site)
10071097REPEAT12.might get lost (downstream of altered splice site)
10981188REPEAT13.might get lost (downstream of altered splice site)
12151305REPEAT14.might get lost (downstream of altered splice site)
13321422REPEAT15.might get lost (downstream of altered splice site)
14231474REPEAT16.might get lost (downstream of altered splice site)
14771567REPEAT17.might get lost (downstream of altered splice site)
15681658REPEAT18.might get lost (downstream of altered splice site)
16851775REPEAT19.might get lost (downstream of altered splice site)
18021892REPEAT20.might get lost (downstream of altered splice site)
18931944REPEAT21.might get lost (downstream of altered splice site)
19472037REPEAT22.might get lost (downstream of altered splice site)
20382128REPEAT23.might get lost (downstream of altered splice site)
21552245REPEAT24.might get lost (downstream of altered splice site)
22722362REPEAT25.might get lost (downstream of altered splice site)
23632414REPEAT26.might get lost (downstream of altered splice site)
23822382CONFLICTR -> Q (in Ref. 1; BAC57496).might get lost (downstream of altered splice site)
24112411MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24162416MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24172507REPEAT27.might get lost (downstream of altered splice site)
25082598REPEAT28.might get lost (downstream of altered splice site)
25392539CONFLICTG -> S (in Ref. 1; BAC57496).might get lost (downstream of altered splice site)
26252715REPEAT29.might get lost (downstream of altered splice site)
26392639MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
26472647MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
26492649MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
26882688CONFLICTL -> S (in Ref. 1; BAC57496).might get lost (downstream of altered splice site)
27162806REPEAT30.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8553 / 8553
position (AA) of stopcodon in wt / mu AA sequence 2851 / 2851
position of stopcodon in wt / mu cDNA 8629 / 8629
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 77 / 77
chromosome 1
strand -1
last intron/exon boundary 215
theoretical NMD boundary in CDS 88
length of CDS 8553
coding sequence (CDS) position 819
cDNA position
(for ins/del: last normal base / first normal base)		 895
gDNA position
(for ins/del: last normal base / first normal base)		 3384
chromosomal position
(for ins/del: last normal base / first normal base)		 152193286
original gDNA sequence snippet TCATCTAGGGGTGAACGACACAGATCTAGCTCAGGTTCGTC
altered gDNA sequence snippet TCATCTAGGGGTGAACGACAAAGATCTAGCTCAGGTTCGTC
original cDNA sequence snippet TCATCTAGGGGTGAACGACACAGATCTAGCTCAGGTTCGTC
altered cDNA sequence snippet TCATCTAGGGGTGAACGACAAAGATCTAGCTCAGGTTCGTC
wildtype AA sequence MPKLLQGVIT VIDVFYQYAT QHGEYDTLNK AELKELLENE FHQILKNPND PDTVDIILQS
LDRDHNKKVD FTEYLLMIFK LVQARNKIIG KDYCQVSGSK LRDDTHQHQE EQEETEKEEN
KRQESSFSHS SWSAGENDSY SRNVRGSLKP GTESISRRLS FQRDFSGQHN SYSGQSSSYG
EQNSDSHQSS GRGQCGSGSG QSPNYGQHGS GSGQSSSNDT HGSGSGQSSG FSQHKSSSGQ
SSGYSQHGSG SGHSSGYGQH GSRSGQSSRG ERHRSSSGSS SSYGQHGSGS RQSLGHGRQG
SGSRQSPSHV RHGSGSGHSS SHGQHGSGSS YSYSRGHYES GSGQTSGFGQ HESGSGQSSG
YSKHGSGSGH SSSQGQHGST SGQASSSGQH GSSSRQSSSY GQHESASRHS SGRGQHSSGS
GQSPGHGQRG SGSGQSPSSG QHGTGFGRSS SSGPYVSGSG YSSGFGHHES SSEHSSGYTQ
HGSGSGHSSG HGQHGSRSGQ SSRGERQGSS AGSSSSYGQH GSGSRQSLGH SRHGSGSGQS
PSPSRGRHES GSRQSSSYGP HGYGSGRSSS RGPYESGSGH SSGLGHQESR SGQSSGYGQH
GSSSGHSSTH GQHGSTSGQS SSCGQHGATS GQSSSHGQHG SGSSQSSRYG QQGSGSGQSP
SRGRHGSDFG HSSSYGQHGS GSGWSSSNGP HGSVSGQSSG FGHKSGSGQS SGYSQHGSGS
SHSSGYRKHG SRSGQSSRSE QHGSSSGLSS SYGQHGSGSH QSSGHGRQGS GSGHSPSRVR
HGSSSGHSSS HGQHGSGTSC SSSCGHYESG SGQASGFGQH ESGSGQGYSQ HGSASGHFSS
QGRHGSTSGQ SSSSGQHDSS SGQSSSYGQH ESASHHASGR GRHGSGSGQS PGHGQRGSGS
GQSPSYGRHG SGSGRSSSSG RHGSGSGQSS GFGHKSSSGQ SSGYTQHGSG SGHSSSYEQH
GSRSGQSSRS EQHGSSSGSS SSYGQHGSGS RQSLGHGQHG SGSGQSPSPS RGRHGSGSGQ
SSSYGPYRSG SGWSSSRGPY ESGSGHSSGL GHRESRSGQS SGYGQHGSSS GHSSTHGQHG
STSGQSSSCG QHGASSGQSS SHGQHGSGSS QSSGYGRQGS GSGQSPGHGQ RGSGSRQSPS
YGRHGSGSGR SSSSGQHGSG LGESSGFGHH ESSSGQSSSY SQHGSGSGHS SGYGQHGSRS
GQSSRGERHG SSSGSSSHYG QHGSGSRQSS GHGRQGSGSG HSPSRGRHGS GLGHSSSHGQ
HGSGSGRSSS RGPYESRSGH SSVFGQHESG SGHSSAYSQH GSGSGHFCSQ GQHGSTSGQS
STFDQEGSST GQSSSYGHRG SGSSQSSGYG RHGAGSGQSP SRGRHGSGSG HSSSYGQHGS
GSGWSSSSGR HGSGSGQSSG FGHHESSSWQ SSGCTQHGSG SGHSSSYEQH GSRSGQSSRG
ERHGSSSGSS SSYGQHGSGS RQSLGHGQHG SGSGQSPSPS RGRHGSGSGQ SSSYSPYGSG
SGWSSSRGPY ESGSSHSSGL GHRESRSGQS SGYGQHGSSS GHSSTHGQHG STSGQSSSCG
QHGASSGQSS SHGQHGSGSS QSSGYGRQGS GSGQSPGHGQ RGSGSRQSPS YGRHGSGSGR
SSSSGQHGSG LGESSGFGHH ESSSGQSSSY SQHGSGSGHS SGYGQHGSRS GQSSRGERHG
SSSRSSSRYG QHGSGSRQSS GHGRQGSGSG QSPSRGRHGS GLGHSSSHGQ HGSGSGRSSS
RGPYESRSGH SSVFGQHESG SGHSSAYSQH GSGSGHFCSQ GQHGSTSGQS STFDQEGSST
GQSSSHGQHG SGSSQSSSYG QQGSGSGQSP SRGRHGSGSG HSSSYGQHGS GSGWSSSSGR
HGSGSGQSSG FGHHESSSWQ SSGYTQHGSG SGHSSSYEQH GSRSGQSSRG EQHGSSSGSS
SSYGQHGSGS RQSLGHGQHG SGSGQSPSPS RGRHGSGSGQ SSSYGPYGSG SGWSSSRGPY
ESGSGHSSGL GHRESRSGQS SGYGQHGSSS GHSSTHGQHG SASGQSSSCG QHGASSGQSS
SHGQHGSGSS QSSGYGRQGS GSGQSPGHGQ RGSGSRQSPS YGRHGSGSGR SSSSGQHGPG
LGESSGFGHH ESSSGQSSSY SQHGSGSGHS SGYGQHGSRS GQSSRGERHG SSSGSSSRYG
QHGSGSRQSS GHGRQGSGSG HSPSRGRHGS GSGHSSSHGQ HGSGSGRSSS RGPYESRSGH
SSVFGQHESG SGHSSAYSQH GSGSGHFCSQ GQHGSTSGQS STFDQEGSST GQSSSHGQHG
SGSSQSSSYG QQGSGSGQSP SRGRHGSGSG HSSSYGQHGS GSGWSSSSGR HGSGSGQSSG
FGHHESSSWQ SSGYTQHGSG SGHSSSYEQH GSRSGQSSRG ERHGSSSGSS SSYGQHGSGS
RQSLGHGQHG SGSGQSPSPS RGRHGSGSGQ SSSYSPYGSG SGWSSSRGPY ESGSGHSSGL
GHRESRSGQS SGYGQHGSSS GHSSTHGQHG STSGQSSSCG QHGASSGQSS SHGQHGSGSS
QSSGYGRQGS GSGQSPGHGQ RGSGSRQSPS YGRHGSGSGR SSSSGQHGSG LGESSGFGHH
ESSSGQSSSY SQHGSGSGHS SGYGQHGSRS GQSSRGERHG SSSGSSSHYG QHGSGSRQSS
GHGRQGSGSG QSPSRGRHGS GLGHSSSHGQ HGSGSGRSSS RGPYESRLGH SSVFGQHESG
SGHSSAYSQH GSGSGHFCSQ GQHGSTSGQS STFDQEGSST GQSSSYGHRG SGSSQSSGYG
RHGAGSGQSL SHGRHGSGSG QSSSYGQHGS GSGQSSGYSQ HGSGSGQDGY SYCKGGSNHD
GGSSGSYFLS FPSSTSPYEY VQEQRCYFYQ *
mutated AA sequence MPKLLQGVIT VIDVFYQYAT QHGEYDTLNK AELKELLENE FHQILKNPND PDTVDIILQS
LDRDHNKKVD FTEYLLMIFK LVQARNKIIG KDYCQVSGSK LRDDTHQHQE EQEETEKEEN
KRQESSFSHS SWSAGENDSY SRNVRGSLKP GTESISRRLS FQRDFSGQHN SYSGQSSSYG
EQNSDSHQSS GRGQCGSGSG QSPNYGQHGS GSGQSSSNDT HGSGSGQSSG FSQHKSSSGQ
SSGYSQHGSG SGHSSGYGQH GSRSGQSSRG ERQRSSSGSS SSYGQHGSGS RQSLGHGRQG
SGSRQSPSHV RHGSGSGHSS SHGQHGSGSS YSYSRGHYES GSGQTSGFGQ HESGSGQSSG
YSKHGSGSGH SSSQGQHGST SGQASSSGQH GSSSRQSSSY GQHESASRHS SGRGQHSSGS
GQSPGHGQRG SGSGQSPSSG QHGTGFGRSS SSGPYVSGSG YSSGFGHHES SSEHSSGYTQ
HGSGSGHSSG HGQHGSRSGQ SSRGERQGSS AGSSSSYGQH GSGSRQSLGH SRHGSGSGQS
PSPSRGRHES GSRQSSSYGP HGYGSGRSSS RGPYESGSGH SSGLGHQESR SGQSSGYGQH
GSSSGHSSTH GQHGSTSGQS SSCGQHGATS GQSSSHGQHG SGSSQSSRYG QQGSGSGQSP
SRGRHGSDFG HSSSYGQHGS GSGWSSSNGP HGSVSGQSSG FGHKSGSGQS SGYSQHGSGS
SHSSGYRKHG SRSGQSSRSE QHGSSSGLSS SYGQHGSGSH QSSGHGRQGS GSGHSPSRVR
HGSSSGHSSS HGQHGSGTSC SSSCGHYESG SGQASGFGQH ESGSGQGYSQ HGSASGHFSS
QGRHGSTSGQ SSSSGQHDSS SGQSSSYGQH ESASHHASGR GRHGSGSGQS PGHGQRGSGS
GQSPSYGRHG SGSGRSSSSG RHGSGSGQSS GFGHKSSSGQ SSGYTQHGSG SGHSSSYEQH
GSRSGQSSRS EQHGSSSGSS SSYGQHGSGS RQSLGHGQHG SGSGQSPSPS RGRHGSGSGQ
SSSYGPYRSG SGWSSSRGPY ESGSGHSSGL GHRESRSGQS SGYGQHGSSS GHSSTHGQHG
STSGQSSSCG QHGASSGQSS SHGQHGSGSS QSSGYGRQGS GSGQSPGHGQ RGSGSRQSPS
YGRHGSGSGR SSSSGQHGSG LGESSGFGHH ESSSGQSSSY SQHGSGSGHS SGYGQHGSRS
GQSSRGERHG SSSGSSSHYG QHGSGSRQSS GHGRQGSGSG HSPSRGRHGS GLGHSSSHGQ
HGSGSGRSSS RGPYESRSGH SSVFGQHESG SGHSSAYSQH GSGSGHFCSQ GQHGSTSGQS
STFDQEGSST GQSSSYGHRG SGSSQSSGYG RHGAGSGQSP SRGRHGSGSG HSSSYGQHGS
GSGWSSSSGR HGSGSGQSSG FGHHESSSWQ SSGCTQHGSG SGHSSSYEQH GSRSGQSSRG
ERHGSSSGSS SSYGQHGSGS RQSLGHGQHG SGSGQSPSPS RGRHGSGSGQ SSSYSPYGSG
SGWSSSRGPY ESGSSHSSGL GHRESRSGQS SGYGQHGSSS GHSSTHGQHG STSGQSSSCG
QHGASSGQSS SHGQHGSGSS QSSGYGRQGS GSGQSPGHGQ RGSGSRQSPS YGRHGSGSGR
SSSSGQHGSG LGESSGFGHH ESSSGQSSSY SQHGSGSGHS SGYGQHGSRS GQSSRGERHG
SSSRSSSRYG QHGSGSRQSS GHGRQGSGSG QSPSRGRHGS GLGHSSSHGQ HGSGSGRSSS
RGPYESRSGH SSVFGQHESG SGHSSAYSQH GSGSGHFCSQ GQHGSTSGQS STFDQEGSST
GQSSSHGQHG SGSSQSSSYG QQGSGSGQSP SRGRHGSGSG HSSSYGQHGS GSGWSSSSGR
HGSGSGQSSG FGHHESSSWQ SSGYTQHGSG SGHSSSYEQH GSRSGQSSRG EQHGSSSGSS
SSYGQHGSGS RQSLGHGQHG SGSGQSPSPS RGRHGSGSGQ SSSYGPYGSG SGWSSSRGPY
ESGSGHSSGL GHRESRSGQS SGYGQHGSSS GHSSTHGQHG SASGQSSSCG QHGASSGQSS
SHGQHGSGSS QSSGYGRQGS GSGQSPGHGQ RGSGSRQSPS YGRHGSGSGR SSSSGQHGPG
LGESSGFGHH ESSSGQSSSY SQHGSGSGHS SGYGQHGSRS GQSSRGERHG SSSGSSSRYG
QHGSGSRQSS GHGRQGSGSG HSPSRGRHGS GSGHSSSHGQ HGSGSGRSSS RGPYESRSGH
SSVFGQHESG SGHSSAYSQH GSGSGHFCSQ GQHGSTSGQS STFDQEGSST GQSSSHGQHG
SGSSQSSSYG QQGSGSGQSP SRGRHGSGSG HSSSYGQHGS GSGWSSSSGR HGSGSGQSSG
FGHHESSSWQ SSGYTQHGSG SGHSSSYEQH GSRSGQSSRG ERHGSSSGSS SSYGQHGSGS
RQSLGHGQHG SGSGQSPSPS RGRHGSGSGQ SSSYSPYGSG SGWSSSRGPY ESGSGHSSGL
GHRESRSGQS SGYGQHGSSS GHSSTHGQHG STSGQSSSCG QHGASSGQSS SHGQHGSGSS
QSSGYGRQGS GSGQSPGHGQ RGSGSRQSPS YGRHGSGSGR SSSSGQHGSG LGESSGFGHH
ESSSGQSSSY SQHGSGSGHS SGYGQHGSRS GQSSRGERHG SSSGSSSHYG QHGSGSRQSS
GHGRQGSGSG QSPSRGRHGS GLGHSSSHGQ HGSGSGRSSS RGPYESRLGH SSVFGQHESG
SGHSSAYSQH GSGSGHFCSQ GQHGSTSGQS STFDQEGSST GQSSSYGHRG SGSSQSSGYG
RHGAGSGQSL SHGRHGSGSG QSSSYGQHGS GSGQSSGYSQ HGSGSGQDGY SYCKGGSNHD
GGSSGSYFLS FPSSTSPYEY VQEQRCYFYQ *
speed 0.18 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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