MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000263801
Querying Taster for transcript #2: ENST00000382039
Querying Taster for transcript #3: ENST00000382044
Querying Taster for transcript #4: ENST00000450115
MT speed 0 s - this script 5.483237 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TP53BP1	polymorphism_automatic	5.65114025260494e-05	simple_aae		affected		G412S	single base exchange	rs689647		show file
TP53BP1	polymorphism_automatic	5.65114025260494e-05	simple_aae		affected		G417S	single base exchange	rs689647		show file
TP53BP1	polymorphism_automatic	5.65114025260494e-05	simple_aae		affected		G417S	single base exchange	rs689647		show file
TP53BP1	polymorphism_automatic	5.65114025260494e-05	simple_aae		affected		G417S	single base exchange	rs689647		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999943488597474 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM107902)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:43762196C>TN/A show variant in all transcripts IGV

HGNC symbol

TP53BP1

Ensembl transcript ID

ENST00000263801

Genbank transcript ID

NM_005657

UniProt peptide

Q12888

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1234G>A
cDNA.1487G>A
g.40731G>A

AA changes

G412S Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

412

frameshift

known variant

Reference ID: rs689647

database	homozygous (T/T)	heterozygous	allele carriers
1000G	505	905	1410
ExAC	4213	16562	20775

known disease mutation at this position, please check HGMD for details (HGMD ID CM107902)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gata2, Transcription Factor, Gata2 Transcription Factor Binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
Junb, Transcription Factor, Junb Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.515	0.59
	3.399	0.592
(flanking)	0.067	0.098

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	40731	wt: 0.9055 / mu: 0.9697 (marginal change - not scored)	wt: AAAGTGGTGAACCAG mu: AAAGTAGTGAACCAG	AGTG\|gtga
Donor gained	40726	0.94	mu: ACTTCAAAGTAGTGA	TTCA\|aagt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

412

mutated

not conserved

412

Ptroglodytes

all identical

ENSPTRG00000006994

417

Mmulatta

not conserved

ENSMMUG00000017078

412

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000043909

414

Ggallus

not conserved

ENSGALG00000008521

412

KRDVL

Trubripes

not conserved

ENSTRUG00000013399

396

Drerio

not conserved

ENSDARG00000079000

338

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
452	452	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
500	500	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
522	522	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
523	523	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
525	525	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
543	543	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
548	548	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
552	552	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
566	566	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
580	580	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
635	635	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
639	639	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
640	640	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
659	659	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
660	660	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
662	662	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
750	750	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
751	751	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
754	754	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
755	755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
771	771	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
782	782	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
784	784	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
796	796	CONFLICT	P -> S (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
809	809	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
831	831	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
834	834	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
855	855	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
876	876	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
877	877	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
892	892	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
993	993	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
996	996	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
999	999	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1002	1002	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1020	1020	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1055	1055	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1056	1056	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1068	1068	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1094	1094	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1101	1101	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1104	1104	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1113	1113	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1114	1114	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1171	1171	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1214	1214	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1216	1216	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1219	1219	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1290	1290	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1320	1320	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1362	1362	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1368	1368	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1372	1372	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1396	1396	MUTAGEN	R->K: No detectable effect on methylation by PRMT1 (in vitro).	might get lost (downstream of altered splice site)
1396	1396	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1398; A-1400; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1396	1403	MOTIF	GAR.	might get lost (downstream of altered splice site)
1398	1398	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1400. Strongly reduced methylation; when associated with K-1401.	might get lost (downstream of altered splice site)
1398	1398	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1400; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1400	1400	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1401.	might get lost (downstream of altered splice site)
1400	1400	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1401	1401	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1403.	might get lost (downstream of altered splice site)
1401	1401	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1400.	might get lost (downstream of altered splice site)
1403	1403	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1401.	might get lost (downstream of altered splice site)
1403	1403	MUTAGEN	R->K: No detectable effect on methylation by PRMT1 (in vitro).	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1430	1430	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1435	1435	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1460	1460	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1462	1462	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1474	1474	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1483	1604	REGION	Tudor-like.	might get lost (downstream of altered splice site)
1490	1494	STRAND		might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->V: Reduces recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->A,H: Loss of interaction with histone H4 that has been dimethylated at 'Lys- 20'.	might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->F: No effect on recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1495	1523	REGION	Interaction with dimethylated histone H4.	might get lost (downstream of altered splice site)
1496	1498	TURN		might get lost (downstream of altered splice site)
1500	1500	MUTAGEN	Y->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1501	1511	STRAND		might get lost (downstream of altered splice site)
1502	1502	MUTAGEN	Y->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1502	1502	MUTAGEN	Y->L,Q: Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1514	1519	STRAND		might get lost (downstream of altered splice site)
1521	1521	MUTAGEN	D->A: Loss of interaction with histone H4 that has been dimethylated at 'Lys-20'. Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1521	1521	MUTAGEN	D->R: Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1523	1523	MUTAGEN	Y->S: Decreases affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1523	1523	MUTAGEN	Y->A: Increases affinity for histone H4 that has been dimethylated at 'Lys-20'. No effect on recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1524	1528	STRAND		might get lost (downstream of altered splice site)
1529	1531	HELIX		might get lost (downstream of altered splice site)
1543	1547	STRAND		might get lost (downstream of altered splice site)
1553	1564	STRAND		might get lost (downstream of altered splice site)
1567	1574	STRAND		might get lost (downstream of altered splice site)
1577	1582	STRAND		might get lost (downstream of altered splice site)
1583	1585	HELIX		might get lost (downstream of altered splice site)
1586	1588	STRAND		might get lost (downstream of altered splice site)
1590	1594	HELIX		might get lost (downstream of altered splice site)
1597	1600	HELIX		might get lost (downstream of altered splice site)
1600	1600	CONFLICT	Y -> C (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
1609	1609	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1618	1618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1631	1631	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1634	1634	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1635	1635	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1638	1638	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1640	1640	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1642	1646	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1643	1643	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1645	1645	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1646	1646	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1647	1647	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1648	1648	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1672	1672	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1673	1673	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1678	1678	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1692	1693	CONFLICT	Missing (in Ref. 2; BAE06107).	might get lost (downstream of altered splice site)
1701	1701	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1705	1705	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1709	1709	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1715	1719	HELIX		might get lost (downstream of altered splice site)
1724	1848	DOMAIN	BRCT 1.	might get lost (downstream of altered splice site)
1726	1731	TURN		might get lost (downstream of altered splice site)
1732	1736	STRAND		might get lost (downstream of altered splice site)
1741	1745	HELIX		might get lost (downstream of altered splice site)
1760	1764	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
1773	1781	HELIX		might get lost (downstream of altered splice site)
1782	1784	TURN		might get lost (downstream of altered splice site)
1793	1799	TURN		might get lost (downstream of altered splice site)
1801	1808	STRAND		might get lost (downstream of altered splice site)
1813	1821	HELIX		might get lost (downstream of altered splice site)
1825	1827	STRAND		might get lost (downstream of altered splice site)
1829	1837	HELIX		might get lost (downstream of altered splice site)
1843	1845	HELIX		might get lost (downstream of altered splice site)
1851	1853	STRAND		might get lost (downstream of altered splice site)
1854	1857	TURN		might get lost (downstream of altered splice site)
1858	1860	STRAND		might get lost (downstream of altered splice site)
1864	1964	DOMAIN	BRCT 2.	might get lost (downstream of altered splice site)
1868	1871	TURN		might get lost (downstream of altered splice site)
1873	1879	STRAND		might get lost (downstream of altered splice site)
1881	1884	TURN		might get lost (downstream of altered splice site)
1885	1894	HELIX		might get lost (downstream of altered splice site)
1898	1908	STRAND		might get lost (downstream of altered splice site)
1914	1916	HELIX		might get lost (downstream of altered splice site)
1918	1922	STRAND		might get lost (downstream of altered splice site)
1928	1937	HELIX		might get lost (downstream of altered splice site)
1944	1953	HELIX		might get lost (downstream of altered splice site)
1958	1958	CONFLICT	G -> R (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
1963	1965	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5919 / 5919

position (AA) of stopcodon in wt / mu AA sequence

1973 / 1973

position of stopcodon in wt / mu cDNA

6172 / 6172

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

254 / 254

chromosome

strand

-1

last intron/exon boundary

5985

theoretical NMD boundary in CDS

5681

length of CDS

5919

coding sequence (CDS) position

1234

cDNA position
(for ins/del: last normal base / first normal base)

1487

gDNA position
(for ins/del: last normal base / first normal base)

40731

chromosomal position
(for ins/del: last normal base / first normal base)

43762196

original gDNA sequence snippet

TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA

altered gDNA sequence snippet

TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA

original cDNA sequence snippet

TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA

altered cDNA sequence snippet

TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA

wildtype AA sequence

MDPTGSQLDS DFSQQDTPCL IIEDSQPESQ VLEDDSGSHF SMLSRHLPNL QTHKENPVLD
VVSNPEQTAG EERGDGNSGF NEHLKENKVA DPVDSSNLDT CGSISQVIEQ LPQPNRTSSV
LGMSVESAPA VEEEKGEELE QKEKEKEEDT SGNTTHSLGA EDTASSQLGF GVLELSQSQD
VEENTVPYEV DKEQLQSVTT NSGYTRLSDV DANTAIKHEE QSNEDIPIAE QSSKDIPVTA
QPSKDVHVVK EQNPPPARSE DMPFSPKASV AAMEAKEQLS AQELMESGLQ IQKSPEPEVL
STQEDLFDQS NKTVSSDGCS TPSREEGGCS LASTPATTLH LLQLSGQRSL VQDSLSTNSS
DLVAPSPDAF RSTPFIVPSS PTEQEGRQDK PMDTSVLSEE GGEPFQKKLQ SGEPVELENP
PLLPESTVSP QASTPISQST PVFPPGSLPI PSQPQFSHDI FIPSPSLEEQ SNDGKKDGDM
HSSSLTVECS KTSEIEPKNS PEDLGLSLTG DSCKLMLSTS EYSQSPKMES LSSHRIDEDG
ENTQIEDTEP MSPVLNSKFV PAENDSILMN PAQDGEVQLS QNDDKTKGDD TDTRDDISIL
ATGCKGREET VAEDVCIDLT CDSGSQAVPS PATRSEALSS VLDQEEAMEI KEHHPEEGSS
GSEVEEIPET PCESQGEELK EENMESVPLH LSLTETQSQG LCLQKEMPKK ECSEAMEVET
SVISIDSPQK LAILDQELEH KEQEAWEEAT SEDSSVVIVD VKEPSPRVDV SCEPLEGVEK
CSDSQSWEDI APEIEPCAEN RLDTKEEKSV EYEGDLKSGT AETEPVEQDS SQPSLPLVRA
DDPLRLDQEL QQPQTQEKTS NSLTEDSKMA NAKQLSSDAE AQKLGKPSAH ASQSFCESSS
ETPFHFTLPK EGDIIPPLTG ATPPLIGHLK LEPKRHSTPI GISNYPESTI ATSDVMSESM
VETHDPILGS GKGDSGAAPD VDDKLCLRMK LVSPETEASE ESLQFNLEKP ATGERKNGST
AVAESVASPQ KTMSVLSCIC EARQENEARS EDPPTTPIRG NLLHFPSSQG EEEKEKLEGD
HTIRQSQQPM KPISPVKDPV SPASQKMVIQ GPSSPQGEAM VTDVLEDQKE GRSTNKENPS
KALIERPSQN NIGIQTMECS LRVPETVSAA TQTIKNVCEQ GTSTVDQNFG KQDATVQTER
GSGEKPVSAP GDDTESLHSQ GEEEFDMPQP PHGHVLHRHM RTIREVRTLV TRVITDVYYV
DGTEVERKVT EETEEPIVEC QECETEVSPS QTGGSSGDLG DISSFSSKAS SLHRTSSGTS
LSAMHSSGSS GKGAGPLRGK TSGTEPADFA LPSSRGGPGK LSPRKGVSQT GTPVCEEDGD
AGLGIRQGGK APVTPRGRGR RGRPPSRTTG TRETAVPGPL GIEDISPNLS PDDKSFSRVV
PRVPDSTRRT DVGAGALRRS DSPEIPFQAA AGPSDGLDAS SPGNSFVGLR VVAKWSSNGY
FYSGKITRDV GAGKYKLLFD DGYECDVLGK DILLCDPIPL DTEVTALSED EYFSAGVVKG
HRKESGELYY SIEKEGQRKW YKRMAVILSL EQGNRLREQY GLGPYEAVTP LTKAADISLD
NLVEGKRKRR SNVSSPATPT ASSSSSTTPT RKITESPRAS MGVLSGKRKL ITSEEERSPA
KRGRKSATVK PGAVGAGEFV SPCESGDNTG EPSALEEQRG PLPLNKTLFL GYAFLLTMAT
TSDKLASRSK LPDGPTGSSE EEEEFLEIPP FNKQYTESQL RAGAGYILED FNEAQCNTAY
QCLLIADQHC RTRKYFLCLA SGIPCVSHVW VHDSCHANQL QNYRNYLLPA GYSLEEQRIL
DWQPRENPFQ NLKVLLVSDQ QQNFLELWSE ILMTGGAASV KQHHSSAHNK DIALGVFDVV
VTDPSCPASV LKCAEALQLP VVSQEWVIQC LIVGERIGFK QHPKYKHDYV SH*

mutated AA sequence

MDPTGSQLDS DFSQQDTPCL IIEDSQPESQ VLEDDSGSHF SMLSRHLPNL QTHKENPVLD
VVSNPEQTAG EERGDGNSGF NEHLKENKVA DPVDSSNLDT CGSISQVIEQ LPQPNRTSSV
LGMSVESAPA VEEEKGEELE QKEKEKEEDT SGNTTHSLGA EDTASSQLGF GVLELSQSQD
VEENTVPYEV DKEQLQSVTT NSGYTRLSDV DANTAIKHEE QSNEDIPIAE QSSKDIPVTA
QPSKDVHVVK EQNPPPARSE DMPFSPKASV AAMEAKEQLS AQELMESGLQ IQKSPEPEVL
STQEDLFDQS NKTVSSDGCS TPSREEGGCS LASTPATTLH LLQLSGQRSL VQDSLSTNSS
DLVAPSPDAF RSTPFIVPSS PTEQEGRQDK PMDTSVLSEE GGEPFQKKLQ SSEPVELENP
PLLPESTVSP QASTPISQST PVFPPGSLPI PSQPQFSHDI FIPSPSLEEQ SNDGKKDGDM
HSSSLTVECS KTSEIEPKNS PEDLGLSLTG DSCKLMLSTS EYSQSPKMES LSSHRIDEDG
ENTQIEDTEP MSPVLNSKFV PAENDSILMN PAQDGEVQLS QNDDKTKGDD TDTRDDISIL
ATGCKGREET VAEDVCIDLT CDSGSQAVPS PATRSEALSS VLDQEEAMEI KEHHPEEGSS
GSEVEEIPET PCESQGEELK EENMESVPLH LSLTETQSQG LCLQKEMPKK ECSEAMEVET
SVISIDSPQK LAILDQELEH KEQEAWEEAT SEDSSVVIVD VKEPSPRVDV SCEPLEGVEK
CSDSQSWEDI APEIEPCAEN RLDTKEEKSV EYEGDLKSGT AETEPVEQDS SQPSLPLVRA
DDPLRLDQEL QQPQTQEKTS NSLTEDSKMA NAKQLSSDAE AQKLGKPSAH ASQSFCESSS
ETPFHFTLPK EGDIIPPLTG ATPPLIGHLK LEPKRHSTPI GISNYPESTI ATSDVMSESM
VETHDPILGS GKGDSGAAPD VDDKLCLRMK LVSPETEASE ESLQFNLEKP ATGERKNGST
AVAESVASPQ KTMSVLSCIC EARQENEARS EDPPTTPIRG NLLHFPSSQG EEEKEKLEGD
HTIRQSQQPM KPISPVKDPV SPASQKMVIQ GPSSPQGEAM VTDVLEDQKE GRSTNKENPS
KALIERPSQN NIGIQTMECS LRVPETVSAA TQTIKNVCEQ GTSTVDQNFG KQDATVQTER
GSGEKPVSAP GDDTESLHSQ GEEEFDMPQP PHGHVLHRHM RTIREVRTLV TRVITDVYYV
DGTEVERKVT EETEEPIVEC QECETEVSPS QTGGSSGDLG DISSFSSKAS SLHRTSSGTS
LSAMHSSGSS GKGAGPLRGK TSGTEPADFA LPSSRGGPGK LSPRKGVSQT GTPVCEEDGD
AGLGIRQGGK APVTPRGRGR RGRPPSRTTG TRETAVPGPL GIEDISPNLS PDDKSFSRVV
PRVPDSTRRT DVGAGALRRS DSPEIPFQAA AGPSDGLDAS SPGNSFVGLR VVAKWSSNGY
FYSGKITRDV GAGKYKLLFD DGYECDVLGK DILLCDPIPL DTEVTALSED EYFSAGVVKG
HRKESGELYY SIEKEGQRKW YKRMAVILSL EQGNRLREQY GLGPYEAVTP LTKAADISLD
NLVEGKRKRR SNVSSPATPT ASSSSSTTPT RKITESPRAS MGVLSGKRKL ITSEEERSPA
KRGRKSATVK PGAVGAGEFV SPCESGDNTG EPSALEEQRG PLPLNKTLFL GYAFLLTMAT
TSDKLASRSK LPDGPTGSSE EEEEFLEIPP FNKQYTESQL RAGAGYILED FNEAQCNTAY
QCLLIADQHC RTRKYFLCLA SGIPCVSHVW VHDSCHANQL QNYRNYLLPA GYSLEEQRIL
DWQPRENPFQ NLKVLLVSDQ QQNFLELWSE ILMTGGAASV KQHHSSAHNK DIALGVFDVV
VTDPSCPASV LKCAEALQLP VVSQEWVIQC LIVGERIGFK QHPKYKHDYV SH*

speed

1.14 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
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999943488597474 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM107902)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:43762196C>TN/A show variant in all transcripts IGV

HGNC symbol

TP53BP1

Ensembl transcript ID

ENST00000382039

Genbank transcript ID

N/A

UniProt peptide

Q12888

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1249G>A
cDNA.1311G>A
g.40731G>A

AA changes

G417S Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

417

frameshift

known variant

Reference ID: rs689647

database	homozygous (T/T)	heterozygous	allele carriers
1000G	505	905	1410
ExAC	4213	16562	20775

known disease mutation at this position, please check HGMD for details (HGMD ID CM107902)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.515	0.59
	3.399	0.592
(flanking)	0.067	0.098

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	40731	wt: 0.9055 / mu: 0.9697 (marginal change - not scored)	wt: AAAGTGGTGAACCAG mu: AAAGTAGTGAACCAG	AGTG\|gtga
Donor gained	40726	0.94	mu: ACTTCAAAGTAGTGA	TTCA\|aagt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

417

mutated

not conserved

417

Ptroglodytes

all identical

ENSPTRG00000006994

417

Mmulatta

not conserved

ENSMMUG00000017078

412

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000043909

414

Ggallus

not conserved

ENSGALG00000008521

412

KRDVL

Trubripes

not conserved

ENSTRUG00000013399

396

Drerio

not conserved

ENSDARG00000079000

338

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
452	452	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
500	500	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
522	522	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
523	523	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
525	525	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
543	543	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
548	548	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
552	552	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
566	566	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
580	580	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
635	635	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
639	639	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
640	640	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
659	659	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
660	660	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
662	662	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
750	750	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
751	751	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
754	754	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
755	755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
771	771	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
782	782	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
784	784	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
796	796	CONFLICT	P -> S (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
809	809	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
831	831	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
834	834	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
855	855	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
876	876	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
877	877	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
892	892	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
993	993	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
996	996	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
999	999	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1002	1002	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1020	1020	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1055	1055	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1056	1056	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1068	1068	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1094	1094	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1101	1101	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1104	1104	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1113	1113	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1114	1114	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1171	1171	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1214	1214	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1216	1216	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1219	1219	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1290	1290	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1320	1320	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1362	1362	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1368	1368	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1372	1372	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1396	1396	MUTAGEN	R->K: No detectable effect on methylation by PRMT1 (in vitro).	might get lost (downstream of altered splice site)
1396	1396	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1398; A-1400; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1396	1403	MOTIF	GAR.	might get lost (downstream of altered splice site)
1398	1398	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1400. Strongly reduced methylation; when associated with K-1401.	might get lost (downstream of altered splice site)
1398	1398	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1400; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1400	1400	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1401.	might get lost (downstream of altered splice site)
1400	1400	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1401	1401	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1403.	might get lost (downstream of altered splice site)
1401	1401	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1400.	might get lost (downstream of altered splice site)
1403	1403	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1401.	might get lost (downstream of altered splice site)
1403	1403	MUTAGEN	R->K: No detectable effect on methylation by PRMT1 (in vitro).	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1430	1430	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1435	1435	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1460	1460	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1462	1462	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1474	1474	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1483	1604	REGION	Tudor-like.	might get lost (downstream of altered splice site)
1490	1494	STRAND		might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->V: Reduces recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->A,H: Loss of interaction with histone H4 that has been dimethylated at 'Lys- 20'.	might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->F: No effect on recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1495	1523	REGION	Interaction with dimethylated histone H4.	might get lost (downstream of altered splice site)
1496	1498	TURN		might get lost (downstream of altered splice site)
1500	1500	MUTAGEN	Y->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1501	1511	STRAND		might get lost (downstream of altered splice site)
1502	1502	MUTAGEN	Y->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1502	1502	MUTAGEN	Y->L,Q: Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1514	1519	STRAND		might get lost (downstream of altered splice site)
1521	1521	MUTAGEN	D->A: Loss of interaction with histone H4 that has been dimethylated at 'Lys-20'. Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1521	1521	MUTAGEN	D->R: Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1523	1523	MUTAGEN	Y->S: Decreases affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1523	1523	MUTAGEN	Y->A: Increases affinity for histone H4 that has been dimethylated at 'Lys-20'. No effect on recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1524	1528	STRAND		might get lost (downstream of altered splice site)
1529	1531	HELIX		might get lost (downstream of altered splice site)
1543	1547	STRAND		might get lost (downstream of altered splice site)
1553	1564	STRAND		might get lost (downstream of altered splice site)
1567	1574	STRAND		might get lost (downstream of altered splice site)
1577	1582	STRAND		might get lost (downstream of altered splice site)
1583	1585	HELIX		might get lost (downstream of altered splice site)
1586	1588	STRAND		might get lost (downstream of altered splice site)
1590	1594	HELIX		might get lost (downstream of altered splice site)
1597	1600	HELIX		might get lost (downstream of altered splice site)
1600	1600	CONFLICT	Y -> C (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
1609	1609	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1618	1618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1631	1631	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1634	1634	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1635	1635	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1638	1638	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1640	1640	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1642	1646	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1643	1643	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1645	1645	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1646	1646	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1647	1647	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1648	1648	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1672	1672	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1673	1673	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1678	1678	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1692	1693	CONFLICT	Missing (in Ref. 2; BAE06107).	might get lost (downstream of altered splice site)
1701	1701	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1705	1705	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1709	1709	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1715	1719	HELIX		might get lost (downstream of altered splice site)
1724	1848	DOMAIN	BRCT 1.	might get lost (downstream of altered splice site)
1726	1731	TURN		might get lost (downstream of altered splice site)
1732	1736	STRAND		might get lost (downstream of altered splice site)
1741	1745	HELIX		might get lost (downstream of altered splice site)
1760	1764	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
1773	1781	HELIX		might get lost (downstream of altered splice site)
1782	1784	TURN		might get lost (downstream of altered splice site)
1793	1799	TURN		might get lost (downstream of altered splice site)
1801	1808	STRAND		might get lost (downstream of altered splice site)
1813	1821	HELIX		might get lost (downstream of altered splice site)
1825	1827	STRAND		might get lost (downstream of altered splice site)
1829	1837	HELIX		might get lost (downstream of altered splice site)
1843	1845	HELIX		might get lost (downstream of altered splice site)
1851	1853	STRAND		might get lost (downstream of altered splice site)
1854	1857	TURN		might get lost (downstream of altered splice site)
1858	1860	STRAND		might get lost (downstream of altered splice site)
1864	1964	DOMAIN	BRCT 2.	might get lost (downstream of altered splice site)
1868	1871	TURN		might get lost (downstream of altered splice site)
1873	1879	STRAND		might get lost (downstream of altered splice site)
1881	1884	TURN		might get lost (downstream of altered splice site)
1885	1894	HELIX		might get lost (downstream of altered splice site)
1898	1908	STRAND		might get lost (downstream of altered splice site)
1914	1916	HELIX		might get lost (downstream of altered splice site)
1918	1922	STRAND		might get lost (downstream of altered splice site)
1928	1937	HELIX		might get lost (downstream of altered splice site)
1944	1953	HELIX		might get lost (downstream of altered splice site)
1958	1958	CONFLICT	G -> R (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
1963	1965	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5784 / 5784

position (AA) of stopcodon in wt / mu AA sequence

1928 / 1928

position of stopcodon in wt / mu cDNA

5846 / 5846

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

63 / 63

chromosome

strand

-1

last intron/exon boundary

5659

theoretical NMD boundary in CDS

5546

length of CDS

5784

coding sequence (CDS) position

1249

cDNA position
(for ins/del: last normal base / first normal base)

1311

gDNA position
(for ins/del: last normal base / first normal base)

40731

chromosomal position
(for ins/del: last normal base / first normal base)

43762196

original gDNA sequence snippet

TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA

altered gDNA sequence snippet

TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA

original cDNA sequence snippet

TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA

altered cDNA sequence snippet

TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA

wildtype AA sequence

MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSGEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
KENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLRETA VPGPLGIEDI
SPNLSPDDKS FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS
FVGLRVVAKW SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT
ALSEDEYFSA GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY
EAVTPLTKAA DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS
GKRKLITSEE ERSPAKRGRK SATVKPGAVG AGEFVSPCES GDNTGEPSAL EEQRGPLPLN
KTLFLGYAFL LTMATTSDKL ASRSKLPDGP TGSSEEEEEF LEIPPFNKQY TESQLRAGAG
YILEDFNEAQ CNTAYQCLLI ADQHCRTRKY FLCLASGIPC VSHVWVHDSC HANQLQNYRN
YLLPAGYSLE EQRILDWQPR ENPFQNLKVL LVSDQQQNFL ELWSEILMTG GAASVKQHHS
SAHNKDIALG VFDVVVTDPS CPASVLKCAE ALQLPVVSQE WVIQCLIVGE RIGFKQHPKY
KHDYVSH*

mutated AA sequence

MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSSEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
KENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLRETA VPGPLGIEDI
SPNLSPDDKS FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS
FVGLRVVAKW SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT
ALSEDEYFSA GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY
EAVTPLTKAA DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS
GKRKLITSEE ERSPAKRGRK SATVKPGAVG AGEFVSPCES GDNTGEPSAL EEQRGPLPLN
KTLFLGYAFL LTMATTSDKL ASRSKLPDGP TGSSEEEEEF LEIPPFNKQY TESQLRAGAG
YILEDFNEAQ CNTAYQCLLI ADQHCRTRKY FLCLASGIPC VSHVWVHDSC HANQLQNYRN
YLLPAGYSLE EQRILDWQPR ENPFQNLKVL LVSDQQQNFL ELWSEILMTG GAASVKQHHS
SAHNKDIALG VFDVVVTDPS CPASVLKCAE ALQLPVVSQE WVIQCLIVGE RIGFKQHPKY
KHDYVSH*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999943488597474 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM107902)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:43762196C>TN/A show variant in all transcripts IGV

HGNC symbol

TP53BP1

Ensembl transcript ID

ENST00000382044

Genbank transcript ID

NM_001141980

UniProt peptide

Q12888

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1249G>A
cDNA.1377G>A
g.40731G>A

AA changes

G417S Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

417

frameshift

known variant

Reference ID: rs689647

database	homozygous (T/T)	heterozygous	allele carriers
1000G	505	905	1410
ExAC	4213	16562	20775

known disease mutation at this position, please check HGMD for details (HGMD ID CM107902)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.515	0.59
	3.399	0.592
(flanking)	0.067	0.098

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	40731	wt: 0.9055 / mu: 0.9697 (marginal change - not scored)	wt: AAAGTGGTGAACCAG mu: AAAGTAGTGAACCAG	AGTG\|gtga
Donor gained	40726	0.94	mu: ACTTCAAAGTAGTGA	TTCA\|aagt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

417

mutated

not conserved

417

Ptroglodytes

all identical

ENSPTRG00000006994

417

Mmulatta

not conserved

ENSMMUG00000017078

412

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000043909

414

Ggallus

not conserved

ENSGALG00000008521

412

KRDVL

Trubripes

not conserved

ENSTRUG00000013399

396

Drerio

not conserved

ENSDARG00000079000

338

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
452	452	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
500	500	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
522	522	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
523	523	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
525	525	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
543	543	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
548	548	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
552	552	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
566	566	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
580	580	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
635	635	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
639	639	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
640	640	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
659	659	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
660	660	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
662	662	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
750	750	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
751	751	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
754	754	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
755	755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
771	771	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
782	782	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
784	784	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
796	796	CONFLICT	P -> S (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
809	809	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
831	831	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
834	834	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
855	855	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
876	876	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
877	877	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
892	892	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
993	993	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
996	996	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
999	999	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1002	1002	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1020	1020	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1055	1055	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1056	1056	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1068	1068	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1094	1094	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1101	1101	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1104	1104	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1113	1113	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1114	1114	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1171	1171	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1214	1214	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1216	1216	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1219	1219	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1290	1290	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1320	1320	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1362	1362	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1368	1368	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1372	1372	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1396	1396	MUTAGEN	R->K: No detectable effect on methylation by PRMT1 (in vitro).	might get lost (downstream of altered splice site)
1396	1396	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1398; A-1400; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1396	1403	MOTIF	GAR.	might get lost (downstream of altered splice site)
1398	1398	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1400. Strongly reduced methylation; when associated with K-1401.	might get lost (downstream of altered splice site)
1398	1398	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1400; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1400	1400	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1401.	might get lost (downstream of altered splice site)
1400	1400	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1401	1401	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1403.	might get lost (downstream of altered splice site)
1401	1401	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1400.	might get lost (downstream of altered splice site)
1403	1403	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1401.	might get lost (downstream of altered splice site)
1403	1403	MUTAGEN	R->K: No detectable effect on methylation by PRMT1 (in vitro).	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1430	1430	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1435	1435	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1460	1460	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1462	1462	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1474	1474	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1483	1604	REGION	Tudor-like.	might get lost (downstream of altered splice site)
1490	1494	STRAND		might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->V: Reduces recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->A,H: Loss of interaction with histone H4 that has been dimethylated at 'Lys- 20'.	might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->F: No effect on recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1495	1523	REGION	Interaction with dimethylated histone H4.	might get lost (downstream of altered splice site)
1496	1498	TURN		might get lost (downstream of altered splice site)
1500	1500	MUTAGEN	Y->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1501	1511	STRAND		might get lost (downstream of altered splice site)
1502	1502	MUTAGEN	Y->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1502	1502	MUTAGEN	Y->L,Q: Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1514	1519	STRAND		might get lost (downstream of altered splice site)
1521	1521	MUTAGEN	D->A: Loss of interaction with histone H4 that has been dimethylated at 'Lys-20'. Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1521	1521	MUTAGEN	D->R: Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1523	1523	MUTAGEN	Y->S: Decreases affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1523	1523	MUTAGEN	Y->A: Increases affinity for histone H4 that has been dimethylated at 'Lys-20'. No effect on recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1524	1528	STRAND		might get lost (downstream of altered splice site)
1529	1531	HELIX		might get lost (downstream of altered splice site)
1543	1547	STRAND		might get lost (downstream of altered splice site)
1553	1564	STRAND		might get lost (downstream of altered splice site)
1567	1574	STRAND		might get lost (downstream of altered splice site)
1577	1582	STRAND		might get lost (downstream of altered splice site)
1583	1585	HELIX		might get lost (downstream of altered splice site)
1586	1588	STRAND		might get lost (downstream of altered splice site)
1590	1594	HELIX		might get lost (downstream of altered splice site)
1597	1600	HELIX		might get lost (downstream of altered splice site)
1600	1600	CONFLICT	Y -> C (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
1609	1609	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1618	1618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1631	1631	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1634	1634	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1635	1635	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1638	1638	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1640	1640	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1642	1646	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1643	1643	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1645	1645	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1646	1646	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1647	1647	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1648	1648	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1672	1672	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1673	1673	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1678	1678	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1692	1693	CONFLICT	Missing (in Ref. 2; BAE06107).	might get lost (downstream of altered splice site)
1701	1701	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1705	1705	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1709	1709	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1715	1719	HELIX		might get lost (downstream of altered splice site)
1724	1848	DOMAIN	BRCT 1.	might get lost (downstream of altered splice site)
1726	1731	TURN		might get lost (downstream of altered splice site)
1732	1736	STRAND		might get lost (downstream of altered splice site)
1741	1745	HELIX		might get lost (downstream of altered splice site)
1760	1764	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
1773	1781	HELIX		might get lost (downstream of altered splice site)
1782	1784	TURN		might get lost (downstream of altered splice site)
1793	1799	TURN		might get lost (downstream of altered splice site)
1801	1808	STRAND		might get lost (downstream of altered splice site)
1813	1821	HELIX		might get lost (downstream of altered splice site)
1825	1827	STRAND		might get lost (downstream of altered splice site)
1829	1837	HELIX		might get lost (downstream of altered splice site)
1843	1845	HELIX		might get lost (downstream of altered splice site)
1851	1853	STRAND		might get lost (downstream of altered splice site)
1854	1857	TURN		might get lost (downstream of altered splice site)
1858	1860	STRAND		might get lost (downstream of altered splice site)
1864	1964	DOMAIN	BRCT 2.	might get lost (downstream of altered splice site)
1868	1871	TURN		might get lost (downstream of altered splice site)
1873	1879	STRAND		might get lost (downstream of altered splice site)
1881	1884	TURN		might get lost (downstream of altered splice site)
1885	1894	HELIX		might get lost (downstream of altered splice site)
1898	1908	STRAND		might get lost (downstream of altered splice site)
1914	1916	HELIX		might get lost (downstream of altered splice site)
1918	1922	STRAND		might get lost (downstream of altered splice site)
1928	1937	HELIX		might get lost (downstream of altered splice site)
1944	1953	HELIX		might get lost (downstream of altered splice site)
1958	1958	CONFLICT	G -> R (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
1963	1965	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5934 / 5934

position (AA) of stopcodon in wt / mu AA sequence

1978 / 1978

position of stopcodon in wt / mu cDNA

6062 / 6062

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

129 / 129

chromosome

strand

-1

last intron/exon boundary

5875

theoretical NMD boundary in CDS

5696

length of CDS

5934

coding sequence (CDS) position

1249

cDNA position
(for ins/del: last normal base / first normal base)

1377

gDNA position
(for ins/del: last normal base / first normal base)

40731

chromosomal position
(for ins/del: last normal base / first normal base)

43762196

original gDNA sequence snippet

TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA

altered gDNA sequence snippet

TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA

original cDNA sequence snippet

TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA

altered cDNA sequence snippet

TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA

wildtype AA sequence

MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSGEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
KENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLSPRK GVSQTGTPVC
EEDGDAGLGI RQGGKAPVTP RGRGRRGRPP SRTTGTRETA VPGPLGIEDI SPNLSPDDKS
FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS FVGLRVVAKW
SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT ALSEDEYFSA
GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY EAVTPLTKAA
DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS GKRKLITSEE
ERSPAKRGRK SATVKPGAVG AGEFVSPCES GDNTGEPSAL EEQRGPLPLN KTLFLGYAFL
LTMATTSDKL ASRSKLPDGP TGSSEEEEEF LEIPPFNKQY TESQLRAGAG YILEDFNEAQ
CNTAYQCLLI ADQHCRTRKY FLCLASGIPC VSHVWVHDSC HANQLQNYRN YLLPAGYSLE
EQRILDWQPR ENPFQNLKVL LVSDQQQNFL ELWSEILMTG GAASVKQHHS SAHNKDIALG
VFDVVVTDPS CPASVLKCAE ALQLPVVSQE WVIQCLIVGE RIGFKQHPKY KHDYVSH*

mutated AA sequence

MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSSEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
KENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLSPRK GVSQTGTPVC
EEDGDAGLGI RQGGKAPVTP RGRGRRGRPP SRTTGTRETA VPGPLGIEDI SPNLSPDDKS
FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS FVGLRVVAKW
SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT ALSEDEYFSA
GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY EAVTPLTKAA
DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS GKRKLITSEE
ERSPAKRGRK SATVKPGAVG AGEFVSPCES GDNTGEPSAL EEQRGPLPLN KTLFLGYAFL
LTMATTSDKL ASRSKLPDGP TGSSEEEEEF LEIPPFNKQY TESQLRAGAG YILEDFNEAQ
CNTAYQCLLI ADQHCRTRKY FLCLASGIPC VSHVWVHDSC HANQLQNYRN YLLPAGYSLE
EQRILDWQPR ENPFQNLKVL LVSDQQQNFL ELWSEILMTG GAASVKQHHS SAHNKDIALG
VFDVVVTDPS CPASVLKCAE ALQLPVVSQE WVIQCLIVGE RIGFKQHPKY KHDYVSH*

speed

0.89 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999943488597474 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM107902)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:43762196C>TN/A show variant in all transcripts IGV

HGNC symbol

TP53BP1

Ensembl transcript ID

ENST00000450115

Genbank transcript ID

NM_001141979

UniProt peptide

Q12888

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1249G>A
cDNA.1333G>A
g.40731G>A

AA changes

G417S Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

417

frameshift

known variant

Reference ID: rs689647

database	homozygous (T/T)	heterozygous	allele carriers
1000G	505	905	1410
ExAC	4213	16562	20775

known disease mutation at this position, please check HGMD for details (HGMD ID CM107902)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.515	0.59
	3.399	0.592
(flanking)	0.067	0.098

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	40731	wt: 0.9055 / mu: 0.9697 (marginal change - not scored)	wt: AAAGTGGTGAACCAG mu: AAAGTAGTGAACCAG	AGTG\|gtga
Donor gained	40726	0.94	mu: ACTTCAAAGTAGTGA	TTCA\|aagt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

417

mutated

not conserved

417

Ptroglodytes

all identical

ENSPTRG00000006994

417

Mmulatta

not conserved

ENSMMUG00000017078

412

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000043909

414

Ggallus

not conserved

ENSGALG00000008521

412

KRDVL

Trubripes

not conserved

ENSTRUG00000013399

396

Drerio

not conserved

ENSDARG00000079000

338

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
452	452	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
500	500	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
522	522	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
523	523	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
525	525	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
543	543	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
548	548	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
552	552	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
566	566	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
580	580	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
635	635	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
639	639	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
640	640	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
659	659	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
660	660	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
662	662	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
750	750	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
751	751	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
754	754	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
755	755	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
771	771	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
782	782	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
784	784	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
796	796	CONFLICT	P -> S (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
809	809	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
831	831	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
834	834	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
855	855	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
876	876	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
877	877	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
892	892	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
993	993	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
996	996	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
999	999	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1002	1002	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1020	1020	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1028	1028	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1055	1055	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1056	1056	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1068	1068	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1094	1094	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1101	1101	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1104	1104	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1113	1113	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1114	1114	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1171	1171	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1214	1214	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1216	1216	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1219	1219	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1290	1290	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1316	1316	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1317	1317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1320	1320	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1362	1362	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1368	1368	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1372	1372	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1396	1396	MUTAGEN	R->K: No detectable effect on methylation by PRMT1 (in vitro).	might get lost (downstream of altered splice site)
1396	1396	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1398; A-1400; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1396	1403	MOTIF	GAR.	might get lost (downstream of altered splice site)
1398	1398	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1400. Strongly reduced methylation; when associated with K-1401.	might get lost (downstream of altered splice site)
1398	1398	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1400; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1400	1400	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1401.	might get lost (downstream of altered splice site)
1400	1400	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1401 and A-1403.	might get lost (downstream of altered splice site)
1401	1401	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1403.	might get lost (downstream of altered splice site)
1401	1401	MUTAGEN	R->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1400.	might get lost (downstream of altered splice site)
1403	1403	MUTAGEN	R->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1401.	might get lost (downstream of altered splice site)
1403	1403	MUTAGEN	R->K: No detectable effect on methylation by PRMT1 (in vitro).	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1430	1430	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1435	1435	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1460	1460	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1462	1462	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1474	1474	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1483	1604	REGION	Tudor-like.	might get lost (downstream of altered splice site)
1490	1494	STRAND		might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->V: Reduces recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->A,H: Loss of interaction with histone H4 that has been dimethylated at 'Lys- 20'.	might get lost (downstream of altered splice site)
1495	1495	MUTAGEN	W->F: No effect on recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1495	1523	REGION	Interaction with dimethylated histone H4.	might get lost (downstream of altered splice site)
1496	1498	TURN		might get lost (downstream of altered splice site)
1500	1500	MUTAGEN	Y->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1501	1511	STRAND		might get lost (downstream of altered splice site)
1502	1502	MUTAGEN	Y->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1502	1502	MUTAGEN	Y->L,Q: Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1514	1519	STRAND		might get lost (downstream of altered splice site)
1521	1521	MUTAGEN	D->A: Loss of interaction with histone H4 that has been dimethylated at 'Lys-20'. Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1521	1521	MUTAGEN	D->R: Abolishes recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1523	1523	MUTAGEN	Y->S: Decreases affinity for histone H4 that has been dimethylated at 'Lys-20'.	might get lost (downstream of altered splice site)
1523	1523	MUTAGEN	Y->A: Increases affinity for histone H4 that has been dimethylated at 'Lys-20'. No effect on recruitment to double strand breaks.	might get lost (downstream of altered splice site)
1524	1528	STRAND		might get lost (downstream of altered splice site)
1529	1531	HELIX		might get lost (downstream of altered splice site)
1543	1547	STRAND		might get lost (downstream of altered splice site)
1553	1564	STRAND		might get lost (downstream of altered splice site)
1567	1574	STRAND		might get lost (downstream of altered splice site)
1577	1582	STRAND		might get lost (downstream of altered splice site)
1583	1585	HELIX		might get lost (downstream of altered splice site)
1586	1588	STRAND		might get lost (downstream of altered splice site)
1590	1594	HELIX		might get lost (downstream of altered splice site)
1597	1600	HELIX		might get lost (downstream of altered splice site)
1600	1600	CONFLICT	Y -> C (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
1609	1609	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1618	1618	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1631	1631	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1634	1634	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1635	1635	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1638	1638	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1640	1640	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1642	1646	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1643	1643	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1645	1645	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1646	1646	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1647	1647	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1648	1648	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1672	1672	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1673	1673	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1678	1678	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1692	1693	CONFLICT	Missing (in Ref. 2; BAE06107).	might get lost (downstream of altered splice site)
1701	1701	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1705	1705	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1709	1709	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1715	1719	HELIX		might get lost (downstream of altered splice site)
1724	1848	DOMAIN	BRCT 1.	might get lost (downstream of altered splice site)
1726	1731	TURN		might get lost (downstream of altered splice site)
1732	1736	STRAND		might get lost (downstream of altered splice site)
1741	1745	HELIX		might get lost (downstream of altered splice site)
1760	1764	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
1773	1781	HELIX		might get lost (downstream of altered splice site)
1782	1784	TURN		might get lost (downstream of altered splice site)
1793	1799	TURN		might get lost (downstream of altered splice site)
1801	1808	STRAND		might get lost (downstream of altered splice site)
1813	1821	HELIX		might get lost (downstream of altered splice site)
1825	1827	STRAND		might get lost (downstream of altered splice site)
1829	1837	HELIX		might get lost (downstream of altered splice site)
1843	1845	HELIX		might get lost (downstream of altered splice site)
1851	1853	STRAND		might get lost (downstream of altered splice site)
1854	1857	TURN		might get lost (downstream of altered splice site)
1858	1860	STRAND		might get lost (downstream of altered splice site)
1864	1964	DOMAIN	BRCT 2.	might get lost (downstream of altered splice site)
1868	1871	TURN		might get lost (downstream of altered splice site)
1873	1879	STRAND		might get lost (downstream of altered splice site)
1881	1884	TURN		might get lost (downstream of altered splice site)
1885	1894	HELIX		might get lost (downstream of altered splice site)
1898	1908	STRAND		might get lost (downstream of altered splice site)
1914	1916	HELIX		might get lost (downstream of altered splice site)
1918	1922	STRAND		might get lost (downstream of altered splice site)
1928	1937	HELIX		might get lost (downstream of altered splice site)
1944	1953	HELIX		might get lost (downstream of altered splice site)
1958	1958	CONFLICT	G -> R (in Ref. 3; CAD97660).	might get lost (downstream of altered splice site)
1963	1965	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5928 / 5928

position (AA) of stopcodon in wt / mu AA sequence

1976 / 1976

position of stopcodon in wt / mu cDNA

6012 / 6012

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

85 / 85

chromosome

strand

-1

last intron/exon boundary

5825

theoretical NMD boundary in CDS

5690

length of CDS

5928

coding sequence (CDS) position

1249

cDNA position
(for ins/del: last normal base / first normal base)

1333

gDNA position
(for ins/del: last normal base / first normal base)

40731

chromosomal position
(for ins/del: last normal base / first normal base)

43762196

original gDNA sequence snippet

TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA

altered gDNA sequence snippet

TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA

original cDNA sequence snippet

TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA

altered cDNA sequence snippet

TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA

wildtype AA sequence

MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSGEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
KENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLSPRK GVSQTGTPVC
EEDGDAGLGI RQGGKAPVTP RGRGRRGRPP SRTTGTRETA VPGPLGIEDI SPNLSPDDKS
FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS FVGLRVVAKW
SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT ALSEDEYFSA
GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY EAVTPLTKAA
DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS GKRKLITSEE
ERSPAKRGRK SATVKPVGAG EFVSPCESGD NTGEPSALEE QRGPLPLNKT LFLGYAFLLT
MATTSDKLAS RSKLPDGPTG SSEEEEEFLE IPPFNKQYTE SQLRAGAGYI LEDFNEAQCN
TAYQCLLIAD QHCRTRKYFL CLASGIPCVS HVWVHDSCHA NQLQNYRNYL LPAGYSLEEQ
RILDWQPREN PFQNLKVLLV SDQQQNFLEL WSEILMTGGA ASVKQHHSSA HNKDIALGVF
DVVVTDPSCP ASVLKCAEAL QLPVVSQEWV IQCLIVGERI GFKQHPKYKH DYVSH*

mutated AA sequence

MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSSEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
KENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLSPRK GVSQTGTPVC
EEDGDAGLGI RQGGKAPVTP RGRGRRGRPP SRTTGTRETA VPGPLGIEDI SPNLSPDDKS
FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS FVGLRVVAKW
SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT ALSEDEYFSA
GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY EAVTPLTKAA
DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS GKRKLITSEE
ERSPAKRGRK SATVKPVGAG EFVSPCESGD NTGEPSALEE QRGPLPLNKT LFLGYAFLLT
MATTSDKLAS RSKLPDGPTG SSEEEEEFLE IPPFNKQYTE SQLRAGAGYI LEDFNEAQCN
TAYQCLLIAD QHCRTRKYFL CLASGIPCVS HVWVHDSCHA NQLQNYRNYL LPAGYSLEEQ
RILDWQPREN PFQNLKVLLV SDQQQNFLEL WSEILMTGGA ASVKQHHSSA HNKDIALGVF
DVVVTDPSCP ASVLKCAEAL QLPVVSQEWV IQCLIVGERI GFKQHPKYKH DYVSH*

speed

0.68 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems