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MutationTaster - study a chromosomal position

 MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000316623
MT speed 0.73 s - this script 2.869748 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FBN1disease_causing_automatic0.999999999989856simple_aaeaffected0C1223Ysingle base exchangers137854469show file

Taster files

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mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999989856 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940764)
  • known disease mutation: rs16444 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:48777615C>TN/A show variant in all transcripts   IGV
HGNC symbol FBN1
Ensembl transcript ID ENST00000316623
Genbank transcript ID NM_000138
UniProt peptide P35555
alteration type single base exchange
alteration region CDS
DNA changes c.3668G>A
cDNA.4124G>A
g.160432G>A
AA changes C1223Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1223
frameshift no
known variant Reference ID: rs137854469
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16444 (pathogenic for Marfan syndrome|Cardiovascular phenotype) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940764)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940764)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940764)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5771
6.2731
(flanking)5.1791
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased160435wt: 0.79 / mu: 0.87wt: CTGTCAGCCGGGATT
mu: CTATCAGCCGGGATT		 GTCA|gccg
Acc gained1604350.34mu: CAGCTATGAATGTAGCTATCAGCCGGGATTTGCACTAATGC atca|GCCG
Donor gained1604280.37mu: AATGTAGCTATCAGC TGTA|gcta
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1223CTNSEGSYECSCQPGFALMPDQRS
mutated  not conserved    1223CTNSEGSYECSYQPGFALMPDQR
Ptroglodytes  all identical  ENSPTRG00000007046  1223CTNSEGSYECSCQPGFALMPDQR
Mmulatta  all identical  ENSMMUG00000004239  1223CTNSEGSYECSCQPGFALMPDQR
Fcatus  all identical  ENSFCAG00000015352  1140CTNSEGSYECSCQPGFALMPDQR
Mmusculus  all identical  ENSMUSG00000027204  1225CTNSDGSYECSCQPGFALMPDQR
Ggallus  all identical  ENSGALG00000004960  1182CTNSEGSYECSCKQGFALMPDHR
Trubripes  all identical  ENSTRUG00000016929  1245CTNSEGSYECSCHSGYALLPDLR
Drerio  no alignment  ENSDARG00000088379  n/a
Dmelanogaster  not conserved  FBgn0051999  447CHNTRGSFRCYRKISTMLTTRTTSTTVPPLSLENARR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008779  1168CTNSEGSYECHCRDGFALMPDHR
protein features
start (aa)end (aa)featuredetails 
11971237DOMAINEGF-like 19; calcium-binding.lost
12231223DISULFIDBy similarity.lost
12361236DISULFIDBy similarity.might get lost (downstream of altered splice site)
12381279DOMAINEGF-like 20; calcium-binding.might get lost (downstream of altered splice site)
12421242DISULFIDBy similarity.might get lost (downstream of altered splice site)
12491249DISULFIDBy similarity.might get lost (downstream of altered splice site)
12541254DISULFIDBy similarity.might get lost (downstream of altered splice site)
12631263DISULFIDBy similarity.might get lost (downstream of altered splice site)
12651265DISULFIDBy similarity.might get lost (downstream of altered splice site)
12781278DISULFIDBy similarity.might get lost (downstream of altered splice site)
12801321DOMAINEGF-like 21; calcium-binding.might get lost (downstream of altered splice site)
12841284DISULFIDBy similarity.might get lost (downstream of altered splice site)
12911291DISULFIDBy similarity.might get lost (downstream of altered splice site)
12961296DISULFIDBy similarity.might get lost (downstream of altered splice site)
13051305DISULFIDBy similarity.might get lost (downstream of altered splice site)
13071307DISULFIDBy similarity.might get lost (downstream of altered splice site)
13201320DISULFIDBy similarity.might get lost (downstream of altered splice site)
13221362DOMAINEGF-like 22; calcium-binding.might get lost (downstream of altered splice site)
13261326DISULFIDBy similarity.might get lost (downstream of altered splice site)
13331333DISULFIDBy similarity.might get lost (downstream of altered splice site)
13391339DISULFIDBy similarity.might get lost (downstream of altered splice site)
13481348DISULFIDBy similarity.might get lost (downstream of altered splice site)
13501350DISULFIDBy similarity.might get lost (downstream of altered splice site)
13611361DISULFIDBy similarity.might get lost (downstream of altered splice site)
13631403DOMAINEGF-like 23; calcium-binding.might get lost (downstream of altered splice site)
13671367DISULFIDBy similarity.might get lost (downstream of altered splice site)
13691369CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13741374DISULFIDBy similarity.might get lost (downstream of altered splice site)
13801380DISULFIDBy similarity.might get lost (downstream of altered splice site)
13891389DISULFIDBy similarity.might get lost (downstream of altered splice site)
13911391DISULFIDBy similarity.might get lost (downstream of altered splice site)
14021402DISULFIDBy similarity.might get lost (downstream of altered splice site)
14041445DOMAINEGF-like 24; calcium-binding.might get lost (downstream of altered splice site)
14081408DISULFIDBy similarity.might get lost (downstream of altered splice site)
14151415DISULFIDBy similarity.might get lost (downstream of altered splice site)
14201420DISULFIDBy similarity.might get lost (downstream of altered splice site)
14291429DISULFIDBy similarity.might get lost (downstream of altered splice site)
14311431DISULFIDBy similarity.might get lost (downstream of altered splice site)
14441444DISULFIDBy similarity.might get lost (downstream of altered splice site)
14461486DOMAINEGF-like 25; calcium-binding.might get lost (downstream of altered splice site)
14501450DISULFIDBy similarity.might get lost (downstream of altered splice site)
14561456DISULFIDBy similarity.might get lost (downstream of altered splice site)
14611461DISULFIDBy similarity.might get lost (downstream of altered splice site)
14701470DISULFIDBy similarity.might get lost (downstream of altered splice site)
14721472DISULFIDBy similarity.might get lost (downstream of altered splice site)
14841484CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
14851485DISULFIDBy similarity.might get lost (downstream of altered splice site)
14871527DOMAINEGF-like 26; calcium-binding.might get lost (downstream of altered splice site)
14901492HELIXmight get lost (downstream of altered splice site)
14911491DISULFIDmight get lost (downstream of altered splice site)
14961498STRANDmight get lost (downstream of altered splice site)
14971497DISULFIDmight get lost (downstream of altered splice site)
15001505STRANDmight get lost (downstream of altered splice site)
15021502DISULFIDmight get lost (downstream of altered splice site)
15081512STRANDmight get lost (downstream of altered splice site)
15111511DISULFIDmight get lost (downstream of altered splice site)
15131513DISULFIDmight get lost (downstream of altered splice site)
15231527STRANDmight get lost (downstream of altered splice site)
15261526DISULFIDmight get lost (downstream of altered splice site)
15321537STRANDmight get lost (downstream of altered splice site)
15321589DOMAINTB 6.might get lost (downstream of altered splice site)
15341534DISULFIDmight get lost (downstream of altered splice site)
15441546STRANDmight get lost (downstream of altered splice site)
15491549DISULFIDmight get lost (downstream of altered splice site)
15501557STRANDmight get lost (downstream of altered splice site)
15591563HELIXmight get lost (downstream of altered splice site)
15621562DISULFIDmight get lost (downstream of altered splice site)
15631563DISULFIDmight get lost (downstream of altered splice site)
15641564DISULFIDmight get lost (downstream of altered splice site)
15641566TURNmight get lost (downstream of altered splice site)
15681570STRANDmight get lost (downstream of altered splice site)
15711574TURNmight get lost (downstream of altered splice site)
15741574DISULFIDmight get lost (downstream of altered splice site)
15771577DISULFIDmight get lost (downstream of altered splice site)
15811581CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
15831588HELIXmight get lost (downstream of altered splice site)
15891589DISULFIDmight get lost (downstream of altered splice site)
15951597STRANDmight get lost (downstream of altered splice site)
15991601TURNmight get lost (downstream of altered splice site)
16041606STRANDmight get lost (downstream of altered splice site)
16061647DOMAINEGF-like 27; calcium-binding.might get lost (downstream of altered splice site)
16091612HELIXmight get lost (downstream of altered splice site)
16101610DISULFIDmight get lost (downstream of altered splice site)
16141617HELIXmight get lost (downstream of altered splice site)
16171617DISULFIDmight get lost (downstream of altered splice site)
16201624STRANDmight get lost (downstream of altered splice site)
16221622DISULFIDmight get lost (downstream of altered splice site)
16291632STRANDmight get lost (downstream of altered splice site)
16311631DISULFIDmight get lost (downstream of altered splice site)
16331633DISULFIDmight get lost (downstream of altered splice site)
16411643TURNmight get lost (downstream of altered splice site)
16461646DISULFIDmight get lost (downstream of altered splice site)
16481688DOMAINEGF-like 28; calcium-binding.might get lost (downstream of altered splice site)
16521652DISULFIDBy similarity.might get lost (downstream of altered splice site)
16581658DISULFIDBy similarity.might get lost (downstream of altered splice site)
16631663DISULFIDBy similarity.might get lost (downstream of altered splice site)
16691669CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16721672DISULFIDBy similarity.might get lost (downstream of altered splice site)
16741674DISULFIDBy similarity.might get lost (downstream of altered splice site)
16871687DISULFIDBy similarity.might get lost (downstream of altered splice site)
16931748DOMAINTB 7.might get lost (downstream of altered splice site)
17031703CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17131713CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17661807DOMAINEGF-like 29; calcium-binding.might get lost (downstream of altered splice site)
17701770DISULFIDBy similarity.might get lost (downstream of altered splice site)
17771777DISULFIDBy similarity.might get lost (downstream of altered splice site)
17821782DISULFIDBy similarity.might get lost (downstream of altered splice site)
17911791DISULFIDBy similarity.might get lost (downstream of altered splice site)
17931793DISULFIDBy similarity.might get lost (downstream of altered splice site)
18061806DISULFIDBy similarity.might get lost (downstream of altered splice site)
18081848DOMAINEGF-like 30; calcium-binding.might get lost (downstream of altered splice site)
18121812DISULFIDBy similarity.might get lost (downstream of altered splice site)
18181818DISULFIDBy similarity.might get lost (downstream of altered splice site)
18241824DISULFIDBy similarity.might get lost (downstream of altered splice site)
18331833DISULFIDBy similarity.might get lost (downstream of altered splice site)
18351835DISULFIDBy similarity.might get lost (downstream of altered splice site)
18471847DISULFIDBy similarity.might get lost (downstream of altered splice site)
18491890DOMAINEGF-like 31; calcium-binding.might get lost (downstream of altered splice site)
18531853DISULFIDBy similarity.might get lost (downstream of altered splice site)
18601860DISULFIDBy similarity.might get lost (downstream of altered splice site)
18651865DISULFIDBy similarity.might get lost (downstream of altered splice site)
18741874DISULFIDBy similarity.might get lost (downstream of altered splice site)
18761876DISULFIDBy similarity.might get lost (downstream of altered splice site)
18891889DISULFIDBy similarity.might get lost (downstream of altered splice site)
18911929DOMAINEGF-like 32; calcium-binding.might get lost (downstream of altered splice site)
18951895DISULFIDBy similarity.might get lost (downstream of altered splice site)
19001900DISULFIDBy similarity.might get lost (downstream of altered splice site)
19021902CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19051905DISULFIDBy similarity.might get lost (downstream of altered splice site)
19141914DISULFIDBy similarity.might get lost (downstream of altered splice site)
19161916DISULFIDBy similarity.might get lost (downstream of altered splice site)
19281928DISULFIDBy similarity.might get lost (downstream of altered splice site)
19301972DOMAINEGF-like 33; calcium-binding.might get lost (downstream of altered splice site)
19341934DISULFIDBy similarity.might get lost (downstream of altered splice site)
19421942DISULFIDBy similarity.might get lost (downstream of altered splice site)
19471947DISULFIDBy similarity.might get lost (downstream of altered splice site)
19561956DISULFIDBy similarity.might get lost (downstream of altered splice site)
19581958DISULFIDBy similarity.might get lost (downstream of altered splice site)
19711971DISULFIDBy similarity.might get lost (downstream of altered splice site)
19732012DOMAINEGF-like 34; calcium-binding.might get lost (downstream of altered splice site)
19771977DISULFIDBy similarity.might get lost (downstream of altered splice site)
19841984DISULFIDBy similarity.might get lost (downstream of altered splice site)
19891989DISULFIDBy similarity.might get lost (downstream of altered splice site)
19981998DISULFIDBy similarity.might get lost (downstream of altered splice site)
20002000DISULFIDBy similarity.might get lost (downstream of altered splice site)
20112011DISULFIDBy similarity.might get lost (downstream of altered splice site)
20132054DOMAINEGF-like 35; calcium-binding.might get lost (downstream of altered splice site)
20172017DISULFIDBy similarity.might get lost (downstream of altered splice site)
20242024DISULFIDBy similarity.might get lost (downstream of altered splice site)
20292029DISULFIDBy similarity.might get lost (downstream of altered splice site)
20382038DISULFIDBy similarity.might get lost (downstream of altered splice site)
20402040DISULFIDBy similarity.might get lost (downstream of altered splice site)
20532053DISULFIDBy similarity.might get lost (downstream of altered splice site)
20542056HELIXmight get lost (downstream of altered splice site)
20592111DOMAINTB 8.might get lost (downstream of altered splice site)
20612061DISULFIDmight get lost (downstream of altered splice site)
20612065STRANDmight get lost (downstream of altered splice site)
20702070DISULFIDmight get lost (downstream of altered splice site)
20702073STRANDmight get lost (downstream of altered splice site)
20712071MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
20772077CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20802084HELIXmight get lost (downstream of altered splice site)
20832083DISULFIDmight get lost (downstream of altered splice site)
20842084DISULFIDmight get lost (downstream of altered splice site)
20852085DISULFIDmight get lost (downstream of altered splice site)
20902092STRANDmight get lost (downstream of altered splice site)
20932096TURNmight get lost (downstream of altered splice site)
20962096DISULFIDmight get lost (downstream of altered splice site)
20992099DISULFIDmight get lost (downstream of altered splice site)
21052110HELIXmight get lost (downstream of altered splice site)
21112111DISULFIDmight get lost (downstream of altered splice site)
21272165DOMAINEGF-like 36; calcium-binding.might get lost (downstream of altered splice site)
21302133STRANDmight get lost (downstream of altered splice site)
21312131DISULFIDBy similarity.might get lost (downstream of altered splice site)
21372137DISULFIDBy similarity.might get lost (downstream of altered splice site)
21382142STRANDmight get lost (downstream of altered splice site)
21422142DISULFIDBy similarity.might get lost (downstream of altered splice site)
21512151DISULFIDBy similarity.might get lost (downstream of altered splice site)
21532153DISULFIDBy similarity.might get lost (downstream of altered splice site)
21572160STRANDmight get lost (downstream of altered splice site)
21582158CONFLICTI -> T (in Ref. 1; AAB02036 and 7; CAA45118).might get lost (downstream of altered splice site)
21632166STRANDmight get lost (downstream of altered splice site)
21642164DISULFIDBy similarity.might get lost (downstream of altered splice site)
21662205DOMAINEGF-like 37; calcium-binding.might get lost (downstream of altered splice site)
21692171HELIXmight get lost (downstream of altered splice site)
21702170DISULFIDBy similarity.might get lost (downstream of altered splice site)
21762176DISULFIDBy similarity.might get lost (downstream of altered splice site)
21772179STRANDmight get lost (downstream of altered splice site)
21782178CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
21812181DISULFIDBy similarity.might get lost (downstream of altered splice site)
21812183STRANDmight get lost (downstream of altered splice site)
21852190STRANDmight get lost (downstream of altered splice site)
21902190DISULFIDBy similarity.might get lost (downstream of altered splice site)
21922192DISULFIDBy similarity.might get lost (downstream of altered splice site)
21932196STRANDmight get lost (downstream of altered splice site)
22002202STRANDmight get lost (downstream of altered splice site)
22042204DISULFIDBy similarity.might get lost (downstream of altered splice site)
22062246DOMAINEGF-like 38; calcium-binding.might get lost (downstream of altered splice site)
22102210DISULFIDBy similarity.might get lost (downstream of altered splice site)
22172217DISULFIDBy similarity.might get lost (downstream of altered splice site)
22212221DISULFIDBy similarity.might get lost (downstream of altered splice site)
22302230DISULFIDBy similarity.might get lost (downstream of altered splice site)
22322232DISULFIDBy similarity.might get lost (downstream of altered splice site)
22452245DISULFIDBy similarity.might get lost (downstream of altered splice site)
22472290DOMAINEGF-like 39; calcium-binding.might get lost (downstream of altered splice site)
22512251DISULFIDBy similarity.might get lost (downstream of altered splice site)
22582258DISULFIDBy similarity.might get lost (downstream of altered splice site)
22652265DISULFIDBy similarity.might get lost (downstream of altered splice site)
22742274DISULFIDBy similarity.might get lost (downstream of altered splice site)
22762276DISULFIDBy similarity.might get lost (downstream of altered splice site)
22892289DISULFIDBy similarity.might get lost (downstream of altered splice site)
22912332DOMAINEGF-like 40; calcium-binding.might get lost (downstream of altered splice site)
22952295DISULFIDBy similarity.might get lost (downstream of altered splice site)
23022302DISULFIDBy similarity.might get lost (downstream of altered splice site)
23072307DISULFIDBy similarity.might get lost (downstream of altered splice site)
23162316DISULFIDBy similarity.might get lost (downstream of altered splice site)
23182318DISULFIDBy similarity.might get lost (downstream of altered splice site)
23312331DISULFIDBy similarity.might get lost (downstream of altered splice site)
23372390DOMAINTB 9.might get lost (downstream of altered splice site)
24022443DOMAINEGF-like 41; calcium-binding.might get lost (downstream of altered splice site)
24062406DISULFIDBy similarity.might get lost (downstream of altered splice site)
24132413DISULFIDBy similarity.might get lost (downstream of altered splice site)
24182418DISULFIDBy similarity.might get lost (downstream of altered splice site)
24272427DISULFIDBy similarity.might get lost (downstream of altered splice site)
24292429DISULFIDBy similarity.might get lost (downstream of altered splice site)
24422442DISULFIDBy similarity.might get lost (downstream of altered splice site)
24442484DOMAINEGF-like 42; calcium-binding.might get lost (downstream of altered splice site)
24482448DISULFIDBy similarity.might get lost (downstream of altered splice site)
24552455DISULFIDBy similarity.might get lost (downstream of altered splice site)
24592459DISULFIDBy similarity.might get lost (downstream of altered splice site)
24682468DISULFIDBy similarity.might get lost (downstream of altered splice site)
24702470DISULFIDBy similarity.might get lost (downstream of altered splice site)
24832483DISULFIDBy similarity.might get lost (downstream of altered splice site)
24852523DOMAINEGF-like 43; calcium-binding.might get lost (downstream of altered splice site)
24892489DISULFIDBy similarity.might get lost (downstream of altered splice site)
24962496DISULFIDBy similarity.might get lost (downstream of altered splice site)
25002500DISULFIDBy similarity.might get lost (downstream of altered splice site)
25092509DISULFIDBy similarity.might get lost (downstream of altered splice site)
25112511DISULFIDBy similarity.might get lost (downstream of altered splice site)
25222522DISULFIDBy similarity.might get lost (downstream of altered splice site)
25242566DOMAINEGF-like 44; calcium-binding.might get lost (downstream of altered splice site)
25282528DISULFIDBy similarity.might get lost (downstream of altered splice site)
25352535DISULFIDBy similarity.might get lost (downstream of altered splice site)
25412541DISULFIDBy similarity.might get lost (downstream of altered splice site)
25502550DISULFIDBy similarity.might get lost (downstream of altered splice site)
25522552DISULFIDBy similarity.might get lost (downstream of altered splice site)
25652565DISULFIDBy similarity.might get lost (downstream of altered splice site)
25672606DOMAINEGF-like 45; calcium-binding.might get lost (downstream of altered splice site)
25712571DISULFIDBy similarity.might get lost (downstream of altered splice site)
25772577DISULFIDBy similarity.might get lost (downstream of altered splice site)
25812581DISULFIDBy similarity.might get lost (downstream of altered splice site)
25902590DISULFIDBy similarity.might get lost (downstream of altered splice site)
25922592DISULFIDBy similarity.might get lost (downstream of altered splice site)
26052605DISULFIDBy similarity.might get lost (downstream of altered splice site)
26072647DOMAINEGF-like 46; calcium-binding.might get lost (downstream of altered splice site)
26112611DISULFIDBy similarity.might get lost (downstream of altered splice site)
26172617DISULFIDBy similarity.might get lost (downstream of altered splice site)
26222622DISULFIDBy similarity.might get lost (downstream of altered splice site)
26312631DISULFIDBy similarity.might get lost (downstream of altered splice site)
26332633DISULFIDBy similarity.might get lost (downstream of altered splice site)
26462646DISULFIDBy similarity.might get lost (downstream of altered splice site)
26482687DOMAINEGF-like 47; calcium-binding.might get lost (downstream of altered splice site)
26522652DISULFIDBy similarity.might get lost (downstream of altered splice site)
26592659DISULFIDBy similarity.might get lost (downstream of altered splice site)
26632663DISULFIDBy similarity.might get lost (downstream of altered splice site)
26722672DISULFIDBy similarity.might get lost (downstream of altered splice site)
26742674DISULFIDBy similarity.might get lost (downstream of altered splice site)
26862686DISULFIDBy similarity.might get lost (downstream of altered splice site)
27342734CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27502750CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27672767CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8616 / 8616
position (AA) of stopcodon in wt / mu AA sequence 2872 / 2872
position of stopcodon in wt / mu cDNA 9072 / 9072
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 457 / 457
chromosome 15
strand -1
last intron/exon boundary 8683
theoretical NMD boundary in CDS 8176
length of CDS 8616
coding sequence (CDS) position 3668
cDNA position
(for ins/del: last normal base / first normal base)		 4124
gDNA position
(for ins/del: last normal base / first normal base)		 160432
chromosomal position
(for ins/del: last normal base / first normal base)		 48777615
original gDNA sequence snippet AGGCAGCTATGAATGTAGCTGTCAGCCGGGATTTGCACTAA
altered gDNA sequence snippet AGGCAGCTATGAATGTAGCTATCAGCCGGGATTTGCACTAA
original cDNA sequence snippet AGGCAGCTATGAATGTAGCTGTCAGCCGGGATTTGCACTAA
altered cDNA sequence snippet AGGCAGCTATGAATGTAGCTATCAGCCGGGATTTGCACTAA
wildtype AA sequence MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS RAKRRGGGGH DALKGPNVCG
SRYNAYCCPG WKTLPGGNQC IVPICRHSCG DGFCSRPNMC TCPSGQIAPS CGSRSIQHCN
IRCMNGGSCS DDHCLCQKGY IGTHCGQPVC ESGCLNGGRC VAPNRCACTY GFTGPQCERD
YRTGPCFTVI SNQMCQGQLS GIVCTKTLCC ATVGRAWGHP CEMCPAQPHP CRRGFIPNIR
TGACQDVDEC QAIPGLCQGG NCINTVGSFE CKCPAGHKLN EVSQKCEDID ECSTIPGICE
GGECTNTVSS YFCKCPPGFY TSPDGTRCID VRPGYCYTAL TNGRCSNQLP QSITKMQCCC
DAGRCWSPGV TVAPEMCPIR ATEDFNKLCS VPMVIPGRPE YPPPPLGPIP PVLPVPPGFP
PGPQIPVPRP PVEYLYPSRE PPRVLPVNVT DYCQLVRYLC QNGRCIPTPG SCRCECNKGF
QLDLRGECID VDECEKNPCA GGECINNQGS YTCQCRAGYQ STLTRTECRD IDECLQNGRI
CNNGRCINTD GSFHCVCNAG FHVTRDGKNC EDMDECSIRN MCLNGMCINE DGSFKCICKP
GFQLASDGRY CKDINECETP GICMNGRCVN TDGSYRCECF PGLAVGLDGR VCVDTHMRST
CYGGYKRGQC IKPLFGAVTK SECCCASTEY AFGEPCQPCP AQNSAEYQAL CSSGPGMTSA
GSDINECALD PDICPNGICE NLRGTYKCIC NSGYEVDSTG KNCVDINECV LNSLLCDNGQ
CRNTPGSFVC TCPKGFIYKP DLKTCEDIDE CESSPCINGV CKNSPGSFIC ECSSESTLDP
TKTICIETIK GTCWQTVIDG RCEININGAT LKSQCCSSLG AAWGSPCTLC QVDPICGKGY
SRIKGTQCED IDECEVFPGV CKNGLCVNTR GSFKCQCPSG MTLDATGRIC LDIRLETCFL
RYEDEECTLP IAGRHRMDAC CCSVGAAWGT EECEECPMRN TPEYEELCPR GPGFATKEIT
NGKPFFKDIN ECKMIPSLCT HGKCRNTIGS FKCRCDSGFA LDSEERNCTD IDECRISPDL
CGRGQCVNTP GDFECKCDEG YESGFMMMKN CMDIDECQRD PLLCRGGVCH NTEGSYRCEC
PPGHQLSPNI SACIDINECE LSAHLCPNGR CVNLIGKYQC ACNPGYHSTP DRLFCVDIDE
CSIMNGGCET FCTNSEGSYE CSCQPGFALM PDQRSCTDID ECEDNPNICD GGQCTNIPGE
YRCLCYDGFM ASEDMKTCVD VNECDLNPNI CLSGTCENTK GSFICHCDMG YSGKKGKTGC
TDINECEIGA HNCGKHAVCT NTAGSFKCSC SPGWIGDGIK CTDLDECSNG THMCSQHADC
KNTMGSYRCL CKEGYTGDGF TCTDLDECSE NLNLCGNGQC LNAPGGYRCE CDMGFVPSAD
GKACEDIDEC SLPNICVFGT CHNLPGLFRC ECEIGYELDR SGGNCTDVNE CLDPTTCISG
NCVNTPGSYI CDCPPDFELN PTRVGCVDTR SGNCYLDIRP RGDNGDTACS NEIGVGVSKA
SCCCSLGKAW GTPCEMCPAV NTSEYKILCP GGEGFRPNPI TVILEDIDEC QELPGLCQGG
KCINTFGSFQ CRCPTGYYLN EDTRVCDDVN ECETPGICGP GTCYNTVGNY TCICPPDYMQ
VNGGNNCMDM RRSLCYRNYY ADNQTCDGEL LFNMTKKMCC CSYNIGRAWN KPCEQCPIPS
TDEFATLCGS QRPGFVIDIY TGLPVDIDEC REIPGVCENG VCINMVGSFR CECPVGFFYN
DKLLVCEDID ECQNGPVCQR NAECINTAGS YRCDCKPGYR FTSTGQCNDR NECQEIPNIC
SHGQCIDTVG SFYCLCHTGF KTNDDQTMCL DINECERDAC GNGTCRNTIG SFNCRCNHGF
ILSHNNDCID VDECASGNGN LCRNGQCINT VGSFQCQCNE GYEVAPDGRT CVDINECLLE
PRKCAPGTCQ NLDGSYRCIC PPGYSLQNEK CEDIDECVEE PEICALGTCS NTEGSFKCLC
PEGFSLSSSG RRCQDLRMSY CYAKFEGGKC SSPKSRNHSK QECCCALKGE GWGDPCELCP
TEPDEAFRQI CPYGSGIIVG PDDSAVDMDE CKEPDVCKHG QCINTDGSYR CECPFGYILA
GNECVDTDEC SVGNPCGNGT CKNVIGGFEC TCEEGFEPGP MMTCEDINEC AQNPLLCAFR
CVNTYGSYEC KCPVGYVLRE DRRMCKDEDE CEEGKHDCTE KQMECKNLIG TYMCICGPGY
QRRPDGEGCV DENECQTKPG ICENGRCLNT RGSYTCECND GFTASPNQDE CLDNREGYCF
TEVLQNMCQI GSSNRNPVTK SECCCDGGRG WGPHCEICPF QGTVAFKKLC PHGRGFMTNG
ADIDECKVIH DVCRNGECVN DRGSYHCICK TGYTPDITGT SCVDLNECNQ APKPCNFICK
NTEGSYQCSC PKGYILQEDG RSCKDLDECA TKQHNCQFLC VNTIGGFTCK CPPGFTQHHT
SCIDNNECTS DINLCGSKGI CQNTPGSFTC ECQRGFSLDQ TGSSCEDVDE CEGNHRCQHG
CQNIIGGYRC SCPQGYLQHY QWNQCVDENE CLSAHICGGA SCHNTLGSYK CMCPAGFQYE
QFSGGCQDIN ECGSAQAPCS YGCSNTEGGY LCGCPPGYFR IGQGHCVSGM GMGRGNPEPP
VSGEMDDNSL SPEACYECKI NGYPKRGRKR RSTNETDASN IEDQSETEAN VSLASWDVEK
TAIFAFNISH VSNKVRILEL LPALTTLTNH NRYLIESGNE DGFFKINQKE GISYLHFTKK
KPVAGTYSLQ ISSTPLYKKK ELNQLEDKYD KDYLSGELGD NLKMKIQVLL H*
mutated AA sequence MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS RAKRRGGGGH DALKGPNVCG
SRYNAYCCPG WKTLPGGNQC IVPICRHSCG DGFCSRPNMC TCPSGQIAPS CGSRSIQHCN
IRCMNGGSCS DDHCLCQKGY IGTHCGQPVC ESGCLNGGRC VAPNRCACTY GFTGPQCERD
YRTGPCFTVI SNQMCQGQLS GIVCTKTLCC ATVGRAWGHP CEMCPAQPHP CRRGFIPNIR
TGACQDVDEC QAIPGLCQGG NCINTVGSFE CKCPAGHKLN EVSQKCEDID ECSTIPGICE
GGECTNTVSS YFCKCPPGFY TSPDGTRCID VRPGYCYTAL TNGRCSNQLP QSITKMQCCC
DAGRCWSPGV TVAPEMCPIR ATEDFNKLCS VPMVIPGRPE YPPPPLGPIP PVLPVPPGFP
PGPQIPVPRP PVEYLYPSRE PPRVLPVNVT DYCQLVRYLC QNGRCIPTPG SCRCECNKGF
QLDLRGECID VDECEKNPCA GGECINNQGS YTCQCRAGYQ STLTRTECRD IDECLQNGRI
CNNGRCINTD GSFHCVCNAG FHVTRDGKNC EDMDECSIRN MCLNGMCINE DGSFKCICKP
GFQLASDGRY CKDINECETP GICMNGRCVN TDGSYRCECF PGLAVGLDGR VCVDTHMRST
CYGGYKRGQC IKPLFGAVTK SECCCASTEY AFGEPCQPCP AQNSAEYQAL CSSGPGMTSA
GSDINECALD PDICPNGICE NLRGTYKCIC NSGYEVDSTG KNCVDINECV LNSLLCDNGQ
CRNTPGSFVC TCPKGFIYKP DLKTCEDIDE CESSPCINGV CKNSPGSFIC ECSSESTLDP
TKTICIETIK GTCWQTVIDG RCEININGAT LKSQCCSSLG AAWGSPCTLC QVDPICGKGY
SRIKGTQCED IDECEVFPGV CKNGLCVNTR GSFKCQCPSG MTLDATGRIC LDIRLETCFL
RYEDEECTLP IAGRHRMDAC CCSVGAAWGT EECEECPMRN TPEYEELCPR GPGFATKEIT
NGKPFFKDIN ECKMIPSLCT HGKCRNTIGS FKCRCDSGFA LDSEERNCTD IDECRISPDL
CGRGQCVNTP GDFECKCDEG YESGFMMMKN CMDIDECQRD PLLCRGGVCH NTEGSYRCEC
PPGHQLSPNI SACIDINECE LSAHLCPNGR CVNLIGKYQC ACNPGYHSTP DRLFCVDIDE
CSIMNGGCET FCTNSEGSYE CSYQPGFALM PDQRSCTDID ECEDNPNICD GGQCTNIPGE
YRCLCYDGFM ASEDMKTCVD VNECDLNPNI CLSGTCENTK GSFICHCDMG YSGKKGKTGC
TDINECEIGA HNCGKHAVCT NTAGSFKCSC SPGWIGDGIK CTDLDECSNG THMCSQHADC
KNTMGSYRCL CKEGYTGDGF TCTDLDECSE NLNLCGNGQC LNAPGGYRCE CDMGFVPSAD
GKACEDIDEC SLPNICVFGT CHNLPGLFRC ECEIGYELDR SGGNCTDVNE CLDPTTCISG
NCVNTPGSYI CDCPPDFELN PTRVGCVDTR SGNCYLDIRP RGDNGDTACS NEIGVGVSKA
SCCCSLGKAW GTPCEMCPAV NTSEYKILCP GGEGFRPNPI TVILEDIDEC QELPGLCQGG
KCINTFGSFQ CRCPTGYYLN EDTRVCDDVN ECETPGICGP GTCYNTVGNY TCICPPDYMQ
VNGGNNCMDM RRSLCYRNYY ADNQTCDGEL LFNMTKKMCC CSYNIGRAWN KPCEQCPIPS
TDEFATLCGS QRPGFVIDIY TGLPVDIDEC REIPGVCENG VCINMVGSFR CECPVGFFYN
DKLLVCEDID ECQNGPVCQR NAECINTAGS YRCDCKPGYR FTSTGQCNDR NECQEIPNIC
SHGQCIDTVG SFYCLCHTGF KTNDDQTMCL DINECERDAC GNGTCRNTIG SFNCRCNHGF
ILSHNNDCID VDECASGNGN LCRNGQCINT VGSFQCQCNE GYEVAPDGRT CVDINECLLE
PRKCAPGTCQ NLDGSYRCIC PPGYSLQNEK CEDIDECVEE PEICALGTCS NTEGSFKCLC
PEGFSLSSSG RRCQDLRMSY CYAKFEGGKC SSPKSRNHSK QECCCALKGE GWGDPCELCP
TEPDEAFRQI CPYGSGIIVG PDDSAVDMDE CKEPDVCKHG QCINTDGSYR CECPFGYILA
GNECVDTDEC SVGNPCGNGT CKNVIGGFEC TCEEGFEPGP MMTCEDINEC AQNPLLCAFR
CVNTYGSYEC KCPVGYVLRE DRRMCKDEDE CEEGKHDCTE KQMECKNLIG TYMCICGPGY
QRRPDGEGCV DENECQTKPG ICENGRCLNT RGSYTCECND GFTASPNQDE CLDNREGYCF
TEVLQNMCQI GSSNRNPVTK SECCCDGGRG WGPHCEICPF QGTVAFKKLC PHGRGFMTNG
ADIDECKVIH DVCRNGECVN DRGSYHCICK TGYTPDITGT SCVDLNECNQ APKPCNFICK
NTEGSYQCSC PKGYILQEDG RSCKDLDECA TKQHNCQFLC VNTIGGFTCK CPPGFTQHHT
SCIDNNECTS DINLCGSKGI CQNTPGSFTC ECQRGFSLDQ TGSSCEDVDE CEGNHRCQHG
CQNIIGGYRC SCPQGYLQHY QWNQCVDENE CLSAHICGGA SCHNTLGSYK CMCPAGFQYE
QFSGGCQDIN ECGSAQAPCS YGCSNTEGGY LCGCPPGYFR IGQGHCVSGM GMGRGNPEPP
VSGEMDDNSL SPEACYECKI NGYPKRGRKR RSTNETDASN IEDQSETEAN VSLASWDVEK
TAIFAFNISH VSNKVRILEL LPALTTLTNH NRYLIESGNE DGFFKINQKE GISYLHFTKK
KPVAGTYSLQ ISSTPLYKKK ELNQLEDKYD KDYLSGELGD NLKMKIQVLL H*
speed 0.73 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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