Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999668933475 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032568)
  • known disease mutation: rs655 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:169521931A>GN/A show variant in all transcripts   IGV
HGNC symbol F5
Ensembl transcript ID ENST00000367797
Genbank transcript ID NM_000130
UniProt peptide P12259
alteration type single base exchange
alteration region CDS
DNA changes c.1160T>C
cDNA.1362T>C
g.33896T>C
AA changes I387T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 387
frameshift no
known variant Reference ID: rs118203911
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs655 (pathogenic for Thrombophilia due to factor V Leiden) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032568)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032568)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032568)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6341
4.581
(flanking)4.581
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased33898wt: 0.60 / mu: 0.75wt: AAATTGGAAAACATT
mu: AAACTGGAAAACATT		 ATTG|gaaa
Donor increased33897wt: 0.88 / mu: 0.98wt: CAAATTGGAAAACAT
mu: CAAACTGGAAAACAT		 AATT|ggaa
Donor marginally increased33890wt: 0.5706 / mu: 0.6475 (marginal change - not scored)wt: CTCAAACCAAATTGG
mu: CTCAAACCAAACTGG		 CAAA|ccaa
Donor gained338950.43mu: ACCAAACTGGAAAAC CAAA|ctgg
distance from splice site 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      387RSQHLDNFSNQIGKHYKKVMYTQY
mutated  not conserved    387RSQHLDNFSNQTGKHYKKVMYTQ
Ptroglodytes  no alignment  ENSPTRG00000001659  n/a
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026579  386RSQHLDNFSNQIGKHYKKVIYRQ
Ggallus  all identical  ENSGALG00000015207  390KAQHLDNYSNLIGKKYKKAIFRQ
Trubripes  all identical  ENSTRUG00000014416  387STRIGGKYKKAVYTL
Drerio  all identical  ENSDARG00000055705  384RIGKKYKKAVFTQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000002423  388KCFTIVLCTNRINCQQKYKKVLYKA
protein features
start (aa)end (aa)featuredetails 
348526DOMAINPlastocyanin-like 3.lost
348684DOMAINF5/8 type A 2.lost
460460CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
468468CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
500500DISULFIDBy similarity.might get lost (downstream of altered splice site)
526526DISULFIDBy similarity.might get lost (downstream of altered splice site)
534535SITECleavage; by activated protein C.might get lost (downstream of altered splice site)
536684DOMAINPlastocyanin-like 4.might get lost (downstream of altered splice site)
554554CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
603603DISULFIDBy similarity.might get lost (downstream of altered splice site)
640640MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
684684DISULFIDBy similarity.might get lost (downstream of altered splice site)
6921573REGIONB.might get lost (downstream of altered splice site)
693693MOD_RESSulfotyrosine (Potential).might get lost (downstream of altered splice site)
707708SITECleavage; by activated protein C.might get lost (downstream of altered splice site)
724724MOD_RESSulfotyrosine (Potential).might get lost (downstream of altered splice site)
726726MOD_RESSulfotyrosine (Potential).might get lost (downstream of altered splice site)
737738SITECleavage; by thrombin.might get lost (downstream of altered splice site)
7381573PROPEPActivation peptide (connecting region). /FTId=PRO_0000002980.might get lost (downstream of altered splice site)
741741CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
741741CONFLICTN -> S (in Ref. 7; ABD23003).might get lost (downstream of altered splice site)
752752CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
760760CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
776776CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
782782CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
821821CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
895911REPEAT1-1.might get lost (downstream of altered splice site)
895928REGION2 X 17 AA tandem repeats.might get lost (downstream of altered splice site)
908908CONFLICTE -> K (in Ref. 1; AAA52424 and 8; CAC82573).might get lost (downstream of altered splice site)
912928REPEAT1-2.might get lost (downstream of altered splice site)
938938CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
977977CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
991991CONFLICTK -> E (in Ref. 5; BAF84302).might get lost (downstream of altered splice site)
10221023SITECleavage; by activated protein C.might get lost (downstream of altered splice site)
10461047SITECleavage; by thrombin.might get lost (downstream of altered splice site)
10741074CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10831083CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11031103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11061106CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11501150MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11851193REPEAT2-1.might get lost (downstream of altered splice site)
11851501REGION35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.might get lost (downstream of altered splice site)
11941202REPEAT2-2.might get lost (downstream of altered splice site)
12031211REPEAT2-3.might get lost (downstream of altered splice site)
12121220REPEAT2-4.might get lost (downstream of altered splice site)
12211229REPEAT2-5.might get lost (downstream of altered splice site)
12301238REPEAT2-6.might get lost (downstream of altered splice site)
12391247REPEAT2-7.might get lost (downstream of altered splice site)
12481256REPEAT2-8.might get lost (downstream of altered splice site)
12571265REPEAT2-9.might get lost (downstream of altered splice site)
12661274REPEAT2-10.might get lost (downstream of altered splice site)
12751283REPEAT2-11.might get lost (downstream of altered splice site)
12841292REPEAT2-12.might get lost (downstream of altered splice site)
12931301REPEAT2-13.might get lost (downstream of altered splice site)
13021310REPEAT2-14.might get lost (downstream of altered splice site)
13111319REPEAT2-15.might get lost (downstream of altered splice site)
13201328REPEAT2-16.might get lost (downstream of altered splice site)
13291337REPEAT2-17.might get lost (downstream of altered splice site)
13381346REPEAT2-18.might get lost (downstream of altered splice site)
13471355REPEAT2-19.might get lost (downstream of altered splice site)
13561364REPEAT2-20.might get lost (downstream of altered splice site)
13651373REPEAT2-21.might get lost (downstream of altered splice site)
13741382REPEAT2-22.might get lost (downstream of altered splice site)
13831391REPEAT2-23.might get lost (downstream of altered splice site)
13921400REPEAT2-24.might get lost (downstream of altered splice site)
14011409REPEAT2-25.might get lost (downstream of altered splice site)
14101418REPEAT2-26.might get lost (downstream of altered splice site)
14191427REPEAT2-27.might get lost (downstream of altered splice site)
14281436REPEAT2-28.might get lost (downstream of altered splice site)
14371445REPEAT2-29.might get lost (downstream of altered splice site)
14461454REPEAT2-30.might get lost (downstream of altered splice site)
14551463REPEAT2-31.might get lost (downstream of altered splice site)
14641472REPEAT2-32.might get lost (downstream of altered splice site)
14731481REPEAT2-33.might get lost (downstream of altered splice site)
14791479CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14821490REPEAT2-34.might get lost (downstream of altered splice site)
14931501REPEAT2-35.might get lost (downstream of altered splice site)
14991499CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15221522MOD_RESSulfotyrosine (Potential).might get lost (downstream of altered splice site)
15381538MOD_RESSulfotyrosine (Potential).might get lost (downstream of altered splice site)
15431543MOD_RESSulfotyrosine (Potential).might get lost (downstream of altered splice site)
15591559CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
15691571TURNmight get lost (downstream of altered splice site)
15731574SITECleavage; by thrombin.might get lost (downstream of altered splice site)
15781751DOMAINPlastocyanin-like 5.might get lost (downstream of altered splice site)
15781907DOMAINF5/8 type A 3.might get lost (downstream of altered splice site)
15931593MOD_RESSulfotyrosine (Potential).might get lost (downstream of altered splice site)
17031703CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17251725DISULFIDProbable.might get lost (downstream of altered splice site)
17511751DISULFIDProbable.might get lost (downstream of altered splice site)
17611907DOMAINPlastocyanin-like 6.might get lost (downstream of altered splice site)
18431843METALCopper (By similarity).might get lost (downstream of altered splice site)
18451845METALCopper (By similarity).might get lost (downstream of altered splice site)
19071907DISULFIDBy similarity.might get lost (downstream of altered splice site)
19072061DOMAINF5/8 type C 1.might get lost (downstream of altered splice site)
20102010CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20612061DISULFIDBy similarity.might get lost (downstream of altered splice site)
20662066DISULFIDBy similarity.might get lost (downstream of altered splice site)
20662221DOMAINF5/8 type C 2.might get lost (downstream of altered splice site)
20722074TURNmight get lost (downstream of altered splice site)
20752077STRANDmight get lost (downstream of altered splice site)
20792081HELIXmight get lost (downstream of altered splice site)
20822085STRANDmight get lost (downstream of altered splice site)
20932095STRANDmight get lost (downstream of altered splice site)
20982100HELIXmight get lost (downstream of altered splice site)
21072109STRANDmight get lost (downstream of altered splice site)
21112113STRANDmight get lost (downstream of altered splice site)
21232139STRANDmight get lost (downstream of altered splice site)
21412143STRANDmight get lost (downstream of altered splice site)
21462163STRANDmight get lost (downstream of altered splice site)
21822185STRANDmight get lost (downstream of altered splice site)
21882211STRANDmight get lost (downstream of altered splice site)
22092209CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22132213CONFLICTA -> T (in Ref. 1; AAA52424).might get lost (downstream of altered splice site)
22132222STRANDmight get lost (downstream of altered splice site)
22212221DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6675 / 6675
position (AA) of stopcodon in wt / mu AA sequence 2225 / 2225
position of stopcodon in wt / mu cDNA 6877 / 6877
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 203 / 203
chromosome 1
strand -1
last intron/exon boundary 6731
theoretical NMD boundary in CDS 6478
length of CDS 6675
coding sequence (CDS) position 1160
cDNA position
(for ins/del: last normal base / first normal base)		 1362
gDNA position
(for ins/del: last normal base / first normal base)		 33896
chromosomal position
(for ins/del: last normal base / first normal base)		 169521931
original gDNA sequence snippet GGATAATTTCTCAAACCAAATTGGAAAACATTATAAGAAAG
altered gDNA sequence snippet GGATAATTTCTCAAACCAAACTGGAAAACATTATAAGAAAG
original cDNA sequence snippet GGATAATTTCTCAAACCAAATTGGAAAACATTATAAGAAAG
altered cDNA sequence snippet GGATAATTTCTCAAACCAAACTGGAAAACATTATAAGAAAG
wildtype AA sequence MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS
FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS
KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE
DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG
TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV
GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI
WDYAPVIPAN MDKKYRSQHL DNFSNQIGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG
PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET
YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRQGIQRAA
DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSTIN GYVPESITTL
GFCFDDTVQW HFCSVGTQNE ILTIHFTGHS FIYGKRHEDT LTLFPMRGES VTVTMDNVGT
WMLTSMNSSP RSKKLRLKFR DVKCIPDDDE DSYEIFEPPE STVMATRKMH DRLEPEDEES
DADYDYQNRL AAALGIRSFR NSSLNQEEEE FNLTALALEN GTEFVSSNTD IIVGSNYSSP
SNISKFTVNN LAEPQKAPSH QQATTAGSPL RHLIGKNSVL NSSTAEHSSP YSEDPIEDPL
QPDVTGIRLL SLGAGEFKSQ EHAKHKGPKV ERDQAAKHRF SWMKLLAHKV GRHLSQDTGS
PSGMRPWEDL PSQDTGSPSR MRPWKDPPSD LLLLKQSNSS KILVGRWHLA SEKGSYEIIQ
DTDEDTAVNN WLISPQNASR AWGESTPLAN KPGKQSGHPK FPRVRHKSLQ VRQDGGKSRL
KKSQFLIKTR KKKKEKHTHH APLSPRTFHP LRSEAYNTFS ERRLKHSLVL HKSNETSLPT
DLNQTLPSMD FGWIASLPDH NQNSSNDTGQ ASCPPGLYQT VPPEEHYQTF PIQDPDQMHS
TSDPSHRSSS PELSEMLEYD RSHKSFPTDI SQMSPSSEHE VWQTVISPDL SQVTLSPELS
QTNLSPDLSH TTLSPELIQR NLSPALGQMP ISPDLSHTTL SPDLSHTTLS LDLSQTNLSP
ELSQTNLSPA LGQMPLSPDL SHTTLSLDFS QTNLSPELSH MTLSPELSQT NLSPALGQMP
ISPDLSHTTL SLDFSQTNLS PELSQTNLSP ALGQMPLSPD PSHTTLSLDL SQTNLSPELS
QTNLSPDLSE MPLFADLSQI PLTPDLDQMT LSPDLGETDL SPNFGQMSLS PDLSQVTLSP
DISDTTLLPD LSQISPPPDL DQIFYPSESS QSLLLQEFNE SFPYPDLGQM PSPSSPTLND
TFLSKEFNPL VIVGLSKDGT DYIEIIPKEE VQSSEDDYAE IDYVPYDDPY KTDVRTNINS
SRDPDNIAAW YLRSNNGNRR NYYIAAEEIS WDYSEFVQRE TDIEDSDDIP EDTTYKKVVF
RKYLDSTFTK RDPRGEYEEH LGILGPIIRA EVDDVIQVRF KNLASRPYSL HAHGLSYEKS
SEGKTYEDDS PEWFKEDNAV QPNSSYTYVW HATERSGPES PGSACRAWAY YSAVNPEKDI
HSGLIGPLLI CQKGILHKDS NMPMDMREFV LLFMTFDEKK SWYYEKKSRS SWRLTSSEMK
KSHEFHAING MIYSLPGLKM YEQEWVRLHL LNIGGSQDIH VVHFHGQTLL ENGNKQHQLG
VWPLLPGSFK TLEMKASKPG WWLLNTEVGE NQRAGMQTPF LIMDRDCRMP MGLSTGIISD
SQIKASEFLG YWEPRLARLN NGGSYNAWSV EKLAAEFASK PWIQVDMQKE VIITGIQTQG
AKHYLKSCYT TEFYVAYSSN QINWQIFKGN STRNVMYFNG NSDASTIKEN QFDPPIVARY
IRISPTRAYN RPTLRLELQG CEVNGCSTPL GMENGKIENK QITASSFKKS WWGDYWEPFR
ARLNAQGRVN AWQAKANNNK QWLEIDLLKI KKITAIITQG CKSLSSEMYV KSYTIHYSEQ
GVEWKPYRLK SSMVDKIFEG NTNTKGHVKN FFNPPIISRF IRVIPKTWNQ SIALRLELFG
CDIY*
mutated AA sequence MFPGCPRLWV LVVLGTSWVG WGSQGTEAAQ LRQFYVAAQG ISWSYRPEPT NSSLNLSVTS
FKKIVYREYE PYFKKEKPQS TISGLLGPTL YAEVGDIIKV HFKNKADKPL SIHPQGIRYS
KLSEGASYLD HTFPAEKMDD AVAPGREYTY EWSISEDSGP THDDPPCLTH IYYSHENLIE
DFNSGLIGPL LICKKGTLTE GGTQKTFDKQ IVLLFAVFDE SKSWSQSSSL MYTVNGYVNG
TMPDITVCAH DHISWHLLGM SSGPELFSIH FNGQVLEQNH HKVSAITLVS ATSTTANMTV
GPEGKWIISS LTPKHLQAGM QAYIDIKNCP KKTRNLKKIT REQRRHMKRW EYFIAAEEVI
WDYAPVIPAN MDKKYRSQHL DNFSNQTGKH YKKVMYTQYE DESFTKHTVN PNMKEDGILG
PIIRAQVRDT LKIVFKNMAS RPYSIYPHGV TFSPYEDEVN SSFTSGRNNT MIRAVQPGET
YTYKWNILEF DEPTENDAQC LTRPYYSDVD IMRDIASGLI GLLLICKSRS LDRQGIQRAA
DIEQQAVFAV FDENKSWYLE DNINKFCENP DEVKRDDPKF YESNIMSTIN GYVPESITTL
GFCFDDTVQW HFCSVGTQNE ILTIHFTGHS FIYGKRHEDT LTLFPMRGES VTVTMDNVGT
WMLTSMNSSP RSKKLRLKFR DVKCIPDDDE DSYEIFEPPE STVMATRKMH DRLEPEDEES
DADYDYQNRL AAALGIRSFR NSSLNQEEEE FNLTALALEN GTEFVSSNTD IIVGSNYSSP
SNISKFTVNN LAEPQKAPSH QQATTAGSPL RHLIGKNSVL NSSTAEHSSP YSEDPIEDPL
QPDVTGIRLL SLGAGEFKSQ EHAKHKGPKV ERDQAAKHRF SWMKLLAHKV GRHLSQDTGS
PSGMRPWEDL PSQDTGSPSR MRPWKDPPSD LLLLKQSNSS KILVGRWHLA SEKGSYEIIQ
DTDEDTAVNN WLISPQNASR AWGESTPLAN KPGKQSGHPK FPRVRHKSLQ VRQDGGKSRL
KKSQFLIKTR KKKKEKHTHH APLSPRTFHP LRSEAYNTFS ERRLKHSLVL HKSNETSLPT
DLNQTLPSMD FGWIASLPDH NQNSSNDTGQ ASCPPGLYQT VPPEEHYQTF PIQDPDQMHS
TSDPSHRSSS PELSEMLEYD RSHKSFPTDI SQMSPSSEHE VWQTVISPDL SQVTLSPELS
QTNLSPDLSH TTLSPELIQR NLSPALGQMP ISPDLSHTTL SPDLSHTTLS LDLSQTNLSP
ELSQTNLSPA LGQMPLSPDL SHTTLSLDFS QTNLSPELSH MTLSPELSQT NLSPALGQMP
ISPDLSHTTL SLDFSQTNLS PELSQTNLSP ALGQMPLSPD PSHTTLSLDL SQTNLSPELS
QTNLSPDLSE MPLFADLSQI PLTPDLDQMT LSPDLGETDL SPNFGQMSLS PDLSQVTLSP
DISDTTLLPD LSQISPPPDL DQIFYPSESS QSLLLQEFNE SFPYPDLGQM PSPSSPTLND
TFLSKEFNPL VIVGLSKDGT DYIEIIPKEE VQSSEDDYAE IDYVPYDDPY KTDVRTNINS
SRDPDNIAAW YLRSNNGNRR NYYIAAEEIS WDYSEFVQRE TDIEDSDDIP EDTTYKKVVF
RKYLDSTFTK RDPRGEYEEH LGILGPIIRA EVDDVIQVRF KNLASRPYSL HAHGLSYEKS
SEGKTYEDDS PEWFKEDNAV QPNSSYTYVW HATERSGPES PGSACRAWAY YSAVNPEKDI
HSGLIGPLLI CQKGILHKDS NMPMDMREFV LLFMTFDEKK SWYYEKKSRS SWRLTSSEMK
KSHEFHAING MIYSLPGLKM YEQEWVRLHL LNIGGSQDIH VVHFHGQTLL ENGNKQHQLG
VWPLLPGSFK TLEMKASKPG WWLLNTEVGE NQRAGMQTPF LIMDRDCRMP MGLSTGIISD
SQIKASEFLG YWEPRLARLN NGGSYNAWSV EKLAAEFASK PWIQVDMQKE VIITGIQTQG
AKHYLKSCYT TEFYVAYSSN QINWQIFKGN STRNVMYFNG NSDASTIKEN QFDPPIVARY
IRISPTRAYN RPTLRLELQG CEVNGCSTPL GMENGKIENK QITASSFKKS WWGDYWEPFR
ARLNAQGRVN AWQAKANNNK QWLEIDLLKI KKITAIITQG CKSLSSEMYV KSYTIHYSEQ
GVEWKPYRLK SSMVDKIFEG NTNTKGHVKN FFNPPIISRF IRVIPKTWNQ SIALRLELFG
CDIY*
speed 0.89 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