mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM940779)
known disease mutation at this position (HGMD CM960647)
known disease mutation at this position (HGMD CM960648)
known disease mutation: rs13263 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276892C>TN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000457416

Genbank transcript ID

NM_022970

UniProt peptide

P21802

alteration type

single base exchange

alteration region

intron

DNA changes

g.81081G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121918487
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13263 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|FGFR2 related craniosynostosis|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940779)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960648)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.505	1
	6.268	1
(flanking)	5.177	1

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	81073	wt: 0.9605 / mu: 0.9630 (marginal change - not scored)	wt: GGGGAATATACGTGC mu: GGGGAATATACGTAC	GGAA\|tata
Donor increased	81084	wt: 0.36 / mu: 0.62	wt: GTGCTTGGCGGGTAA mu: GTACTTGGCGGGTAA	GCTT\|ggcg

distance from splice site

1304

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
22	377	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
378	398	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
399	821	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
448	448	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
449	449	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
466	466	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
472	474	HELIX		might get lost (downstream of altered splice site)
478	480	HELIX		might get lost (downstream of altered splice site)
481	489	STRAND		might get lost (downstream of altered splice site)
481	770	DOMAIN	Protein kinase.	might get lost (downstream of altered splice site)
487	495	NP_BIND	ATP.	might get lost (downstream of altered splice site)
494	501	STRAND		might get lost (downstream of altered splice site)
504	506	STRAND		might get lost (downstream of altered splice site)
511	518	STRAND		might get lost (downstream of altered splice site)
517	517	BINDING	ATP.	might get lost (downstream of altered splice site)
525	541	HELIX		might get lost (downstream of altered splice site)
549	549	MUTAGEN	N->T: Constitutive kinase activity.	might get lost (downstream of altered splice site)
550	554	STRAND		might get lost (downstream of altered splice site)
556	558	STRAND		might get lost (downstream of altered splice site)
561	565	STRAND		might get lost (downstream of altered splice site)
565	565	MUTAGEN	E->A: Constitutive kinase activity.	might get lost (downstream of altered splice site)
565	567	NP_BIND	ATP.	might get lost (downstream of altered splice site)
568	571	STRAND		might get lost (downstream of altered splice site)
571	571	BINDING	ATP.	might get lost (downstream of altered splice site)
572	577	HELIX		might get lost (downstream of altered splice site)
586	586	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
588	588	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
594	596	HELIX		might get lost (downstream of altered splice site)
600	619	HELIX		might get lost (downstream of altered splice site)
626	626	ACT_SITE	Proton acceptor.	might get lost (downstream of altered splice site)
629	631	HELIX		might get lost (downstream of altered splice site)
632	634	STRAND		might get lost (downstream of altered splice site)
636	638	TURN		might get lost (downstream of altered splice site)
640	642	STRAND		might get lost (downstream of altered splice site)
652	654	TURN		might get lost (downstream of altered splice site)
656	656	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
656	657	MUTAGEN	Missing: Loss of kinase activity.	might get lost (downstream of altered splice site)
657	657	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
657	659	TURN		might get lost (downstream of altered splice site)
664	666	STRAND		might get lost (downstream of altered splice site)
667	669	HELIX		might get lost (downstream of altered splice site)
672	676	HELIX		might get lost (downstream of altered splice site)
682	697	HELIX		might get lost (downstream of altered splice site)
709	717	HELIX		might get lost (downstream of altered splice site)
726	728	STRAND		might get lost (downstream of altered splice site)
730	739	HELIX		might get lost (downstream of altered splice site)
744	746	HELIX		might get lost (downstream of altered splice site)
750	764	HELIX		might get lost (downstream of altered splice site)
769	769	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
769	769	MUTAGEN	Y->F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

593 / 593

chromosome

strand

-1

last intron/exon boundary

2897

theoretical NMD boundary in CDS

2254

length of CDS

2469

coding sequence (CDS) position

N/A

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

N/A

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

81081

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

123276892

original gDNA sequence snippet

GGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTG

altered gDNA sequence snippet

GGACGCTGGGGAATATACGTACTTGGCGGGTAATTCTATTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK
QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT
KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD
KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK
MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT
FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK
TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG
HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEEY LDLSQPLEQY
SPSYPDTRSS CSSGDDSVFS PDPMPYEPCL PQYPHINGSV KT*

mutated AA sequence

N/A

speed

0.40 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