Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000380880
Querying Taster for transcript #2: ENST00000380881
Querying Taster for transcript #3: ENST00000422223
MT speed 1.96 s - this script 3.457981 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FREM1disease_causing_automatic0.999995305306092simple_aaeaffected0R649Wsingle base exchangers121912609show file
FREM1disease_causing_automatic0.999995305306092simple_aaeaffected0R650Wsingle base exchangers121912609show file
FREM1disease_causing_automatic0.999995305306092simple_aaeaffected0R649Wsingle base exchangers121912609show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999995305306092 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM095564)
  • known disease mutation: rs1989 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:14824927G>AN/A show variant in all transcripts   IGV
HGNC symbol FREM1
Ensembl transcript ID ENST00000380880
Genbank transcript ID N/A
UniProt peptide Q5H8C1
alteration type single base exchange
alteration region CDS
DNA changes c.1945C>T
cDNA.2729C>T
g.86067C>T
AA changes R649W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 649
frameshift no
known variant Reference ID: rs121912609
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1989 (pathogenic for BNAR syndrome|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM095564)

known disease mutation at this position, please check HGMD for details (HGMD ID CM095564)
known disease mutation at this position, please check HGMD for details (HGMD ID CM095564)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1931
4.1951
(flanking)0.0820.747
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased86076wt: 0.21 / mu: 0.38wt: CTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGGTG
mu: CTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGAGGTG		 ttgg|TTGT
Acc increased86072wt: 0.25 / mu: 0.31wt: GCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGA
mu: GCTCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGA		 gcat|TTGG
Acc marginally increased86075wt: 0.7630 / mu: 0.8478 (marginal change - not scored)wt: CCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGGT
mu: CCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGAGGT		 tttg|GTTG
Acc marginally increased86074wt: 0.3792 / mu: 0.4242 (marginal change - not scored)wt: TCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGG
mu: TCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGAGG		 attt|GGTT
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      649DQLPKEAPGVSRHLVVKETEVAYI
mutated  not conserved    649DQLPKEAPGVSWHLVVKETEVAY
Ptroglodytes  all identical  ENSPTRG00000020782  647DQLPKEAPGVSRHLVVKETEVAY
Mmulatta  all identical  ENSMMUG00000008128  647DQLPKEAPGVSRHLVVKETEVAY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000059049  655DQLPKEAPGISRHLVVKETEVAY
Ggallus  all identical  ENSGALG00000005426  596DQLPKEAPGVTRHLVV
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  not conserved  C48E7.6  378---LKLLHHSSAL
Xtropicalis  all identical  ENSXETG00000003300  650DQLPIEAPGTVRHLMVKENEVVY
protein features
start (aa)end (aa)featuredetails 
622758REPEATCSPG 4.lost
759869REPEATCSPG 5.might get lost (downstream of altered splice site)
8701005REPEATCSPG 6.might get lost (downstream of altered splice site)
10061129REPEATCSPG 7.might get lost (downstream of altered splice site)
10141014CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11301256REPEATCSPG 8.might get lost (downstream of altered splice site)
12571375REPEATCSPG 9.might get lost (downstream of altered splice site)
13761487REPEATCSPG 10.might get lost (downstream of altered splice site)
14881608REPEATCSPG 11.might get lost (downstream of altered splice site)
15661566CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091729REPEATCSPG 12.might get lost (downstream of altered splice site)
17311830DOMAINCalx-beta.might get lost (downstream of altered splice site)
17351735CONFLICTI -> N (in Ref. 5; AAH31064).might get lost (downstream of altered splice site)
18611861CONFLICTS -> A (in Ref. 3; CAE46048).might get lost (downstream of altered splice site)
19071909MOTIFCell attachment site (Potential).might get lost (downstream of altered splice site)
20602174DOMAINC-type lectin.might get lost (downstream of altered splice site)
21512151DISULFIDBy similarity.might get lost (downstream of altered splice site)
21652165DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6540 / 6540
position (AA) of stopcodon in wt / mu AA sequence 2180 / 2180
position of stopcodon in wt / mu cDNA 7324 / 7324
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 785 / 785
chromosome 9
strand -1
last intron/exon boundary 7125
theoretical NMD boundary in CDS 6290
length of CDS 6540
coding sequence (CDS) position 1945
cDNA position
(for ins/del: last normal base / first normal base)		 2729
gDNA position
(for ins/del: last normal base / first normal base)		 86067
chromosomal position
(for ins/del: last normal base / first normal base)		 14824927
original gDNA sequence snippet AAGAGGCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAA
altered gDNA sequence snippet AAGAGGCTCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAA
original cDNA sequence snippet AAGAGGCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAA
altered cDNA sequence snippet AAGAGGCTCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAA
wildtype AA sequence MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA IPKEKDACKV
EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD EDTVKLRLYR FTERDTFIET
FILWVYLLEP DCNIIHMSNN VLEVPEFNGL SQAIDKNLLR FDYDRMASLE CTVSLDTART
RLPAHGQMVL GEPRPEEPRG DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF
LLMGLRYQHL DPPSPNIDYI SIQLDLTDTR SKIVYKSESA WLPVYIRAGI PNQIPKAAFM
AVFILEVDQF ILTSLTTSVL DCEEDETPKP LLVFNITKAP LQGYVTHLLD HTRPISSFTW
KDLSDMQIAY QPPNSSHSER RHDEVELEVY DFFFERSAPM TVHISIRTAD TNAPRVSWNT
GLSLLEGQSR AITWEQFQVV DNDDIGAVRL VTVGGLQHGW LTLRGGKGFL FTVADLQAGV
VRYHHDDSDS TKDFVVFRIF DGHHSIRHKF PINVLPKDDS PPFLITNVVI ELEEGQTILI
QGSMLRASDV DASDDYIFFN ITKPPQAGEI MKKPGPGLIG YPVHGFLQRD LFNGIIYYRH
FGGEIFEDSF QFVLWDSHEP PNLSVPQVAT IHITPVDDQL PKEAPGVSRH LVVKETEVAY
ITKKQLHFID SESYDRELVY TITTPPFFSF SHRHLDAGKL FMVDSIPKVV KNPTALELRS
FTQHAVNYMK VAYMPPMQDI GPHCRDVQFT FSVSNQHGGT LHGICFNITI LPVDNQVPEA
FTNPLKVTEG GQSIISTEHI LISDADTKLD NIDLSLRELP LHGRVELNGF PLNSGGTFSW
GDLHTLKVRY QHDGTEVLQD DLLLEVTDGT NSAEFVLHVE VFPVNDEPPV LKADLMPVMN
CSEGGEVVIT SEYIFATDVD SDNLKLMFVI AREPQHGVVR RAGVTVDQFS QRDVISEAVT
YKHTGGEIGL MPCFDTITLV VSDGEAGPFV NGCCYNGPNP SVPLHASFPV YDLNITVYPV
DNQPPSIAIG PVFVVDEGCS TALTVNHLSA TDPDTAADDL EFVLVSPPQF GYLENILPSV
GFEKSNIGIS IDSFQWKDMN AFHINYVQSR HLRIEPTADQ FTVYVTDGKH HSLEIPFSII
INPTNDEAPD FVVQNITVCE GQMKELDSSI ISAVDLDIPQ DALLFSITQK PRHGLLIDRG
FSKDFSENKQ PANPHQKHAP VHSFSMELLK TGMRLTYMHD DSESLADDFT IQLSDGKHKI
LKTISVEVIP VNDEKPMLSK KAEIAMNMGE TRIISSAILS AIDEDSPREK IYYVFERLPQ
NGQLQLKIGR DWVPLSPGMK CTQEEVDLNL LRYTHTGAMD SQNQDSFTFY LWDGNNRSPA
LDCQITIKDM EKGDIVILTK PLVVSKGDRG FLTTTTLLAV DGTDKPEELL YVITSPPRYG
QIEYVHYPGV PITNFSQMDV VGQTVCYVHK SKVTVSSDRF RFIISNGLRT EHGVFEITLE
TVDRALPVVT RNKGLRLAQG AVGLLSPDLL QLTDPDTPAE NLTFLLVQLP QHGQLYLWGT
GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC FTFMATDGTN QGFIVNGRVW EEPVLFTIQV
DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY ITSRVLKASD PDTEDDQIIF KILQGPKHGH
LENTTTGEFI HEKFSQKDLN SKTILYIINP SLEVNSDTVE FQIMDPTGNS ATPQILELKW
SHIEWSQTEY EVCENVGLLP LEIIRRGYSM DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF
DPGMSTKMWN IAITYDGLEE DDEVFEVILN SPVNAVLGTK TKAAVKILDS KGGQCHPSYS
SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF HLERRPLPSS MQLAVIRGDT LRGFDSTDLS
QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH GIVSLKLEDD SFPTHKRKAK VSIISQPQKT
IKVAELPQAD KVESTTDSHF PRQDQLPSFP KNCTLELKGL FHFEEGIQKL YQCNGIAWKA
WSPQTKDVED KSCPAGWHQH SGYCHILITE QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR
WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE PVAFTNGRRG PSQRSKLGKS CVLVQRQGKW
QTKDCRRAKP HNYVCSRKL*
mutated AA sequence MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA IPKEKDACKV
EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD EDTVKLRLYR FTERDTFIET
FILWVYLLEP DCNIIHMSNN VLEVPEFNGL SQAIDKNLLR FDYDRMASLE CTVSLDTART
RLPAHGQMVL GEPRPEEPRG DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF
LLMGLRYQHL DPPSPNIDYI SIQLDLTDTR SKIVYKSESA WLPVYIRAGI PNQIPKAAFM
AVFILEVDQF ILTSLTTSVL DCEEDETPKP LLVFNITKAP LQGYVTHLLD HTRPISSFTW
KDLSDMQIAY QPPNSSHSER RHDEVELEVY DFFFERSAPM TVHISIRTAD TNAPRVSWNT
GLSLLEGQSR AITWEQFQVV DNDDIGAVRL VTVGGLQHGW LTLRGGKGFL FTVADLQAGV
VRYHHDDSDS TKDFVVFRIF DGHHSIRHKF PINVLPKDDS PPFLITNVVI ELEEGQTILI
QGSMLRASDV DASDDYIFFN ITKPPQAGEI MKKPGPGLIG YPVHGFLQRD LFNGIIYYRH
FGGEIFEDSF QFVLWDSHEP PNLSVPQVAT IHITPVDDQL PKEAPGVSWH LVVKETEVAY
ITKKQLHFID SESYDRELVY TITTPPFFSF SHRHLDAGKL FMVDSIPKVV KNPTALELRS
FTQHAVNYMK VAYMPPMQDI GPHCRDVQFT FSVSNQHGGT LHGICFNITI LPVDNQVPEA
FTNPLKVTEG GQSIISTEHI LISDADTKLD NIDLSLRELP LHGRVELNGF PLNSGGTFSW
GDLHTLKVRY QHDGTEVLQD DLLLEVTDGT NSAEFVLHVE VFPVNDEPPV LKADLMPVMN
CSEGGEVVIT SEYIFATDVD SDNLKLMFVI AREPQHGVVR RAGVTVDQFS QRDVISEAVT
YKHTGGEIGL MPCFDTITLV VSDGEAGPFV NGCCYNGPNP SVPLHASFPV YDLNITVYPV
DNQPPSIAIG PVFVVDEGCS TALTVNHLSA TDPDTAADDL EFVLVSPPQF GYLENILPSV
GFEKSNIGIS IDSFQWKDMN AFHINYVQSR HLRIEPTADQ FTVYVTDGKH HSLEIPFSII
INPTNDEAPD FVVQNITVCE GQMKELDSSI ISAVDLDIPQ DALLFSITQK PRHGLLIDRG
FSKDFSENKQ PANPHQKHAP VHSFSMELLK TGMRLTYMHD DSESLADDFT IQLSDGKHKI
LKTISVEVIP VNDEKPMLSK KAEIAMNMGE TRIISSAILS AIDEDSPREK IYYVFERLPQ
NGQLQLKIGR DWVPLSPGMK CTQEEVDLNL LRYTHTGAMD SQNQDSFTFY LWDGNNRSPA
LDCQITIKDM EKGDIVILTK PLVVSKGDRG FLTTTTLLAV DGTDKPEELL YVITSPPRYG
QIEYVHYPGV PITNFSQMDV VGQTVCYVHK SKVTVSSDRF RFIISNGLRT EHGVFEITLE
TVDRALPVVT RNKGLRLAQG AVGLLSPDLL QLTDPDTPAE NLTFLLVQLP QHGQLYLWGT
GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC FTFMATDGTN QGFIVNGRVW EEPVLFTIQV
DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY ITSRVLKASD PDTEDDQIIF KILQGPKHGH
LENTTTGEFI HEKFSQKDLN SKTILYIINP SLEVNSDTVE FQIMDPTGNS ATPQILELKW
SHIEWSQTEY EVCENVGLLP LEIIRRGYSM DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF
DPGMSTKMWN IAITYDGLEE DDEVFEVILN SPVNAVLGTK TKAAVKILDS KGGQCHPSYS
SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF HLERRPLPSS MQLAVIRGDT LRGFDSTDLS
QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH GIVSLKLEDD SFPTHKRKAK VSIISQPQKT
IKVAELPQAD KVESTTDSHF PRQDQLPSFP KNCTLELKGL FHFEEGIQKL YQCNGIAWKA
WSPQTKDVED KSCPAGWHQH SGYCHILITE QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR
WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE PVAFTNGRRG PSQRSKLGKS CVLVQRQGKW
QTKDCRRAKP HNYVCSRKL*
speed 0.67 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999995305306092 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM095564)
  • known disease mutation: rs1989 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:14824927G>AN/A show variant in all transcripts   IGV
HGNC symbol FREM1
Ensembl transcript ID ENST00000380881
Genbank transcript ID N/A
UniProt peptide Q5H8C1
alteration type single base exchange
alteration region CDS
DNA changes c.1948C>T
cDNA.2764C>T
g.86067C>T
AA changes R650W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 650
frameshift no
known variant Reference ID: rs121912609
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1989 (pathogenic for BNAR syndrome|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM095564)

known disease mutation at this position, please check HGMD for details (HGMD ID CM095564)
known disease mutation at this position, please check HGMD for details (HGMD ID CM095564)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1931
4.1951
(flanking)0.0820.747
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased86076wt: 0.21 / mu: 0.38wt: CTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGGTG
mu: CTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGAGGTG		 ttgg|TTGT
Acc increased86072wt: 0.25 / mu: 0.31wt: GCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGA
mu: GCTCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGA		 gcat|TTGG
Acc marginally increased86075wt: 0.7630 / mu: 0.8478 (marginal change - not scored)wt: CCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGGT
mu: CCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGAGGT		 tttg|GTTG
Acc marginally increased86074wt: 0.3792 / mu: 0.4242 (marginal change - not scored)wt: TCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGG
mu: TCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGAGG		 attt|GGTT
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      650DQLPKEAPGVSRHLVVKETEVAYI
mutated  not conserved    650DQLPKEAPGVSWHLVVKETEVA
Ptroglodytes  all identical  ENSPTRG00000020782  647DQLPKEAPGVSRHLVVKETEVA
Mmulatta  all identical  ENSMMUG00000008128  647DQLPKEAPGVSRHLVVKETEVA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000059049  655DQLPKEAPGISRHLVVKETEVAY
Ggallus  all identical  ENSGALG00000005426  596DQLPKEAPGVTRHLV
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  not conserved  C48E7.6  378---LKLLHHSSAL
Xtropicalis  all identical  ENSXETG00000003300  650DQLPIEAPGTVRHLMVKENEVVY
protein features
start (aa)end (aa)featuredetails 
622758REPEATCSPG 4.lost
759869REPEATCSPG 5.might get lost (downstream of altered splice site)
8701005REPEATCSPG 6.might get lost (downstream of altered splice site)
10061129REPEATCSPG 7.might get lost (downstream of altered splice site)
10141014CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11301256REPEATCSPG 8.might get lost (downstream of altered splice site)
12571375REPEATCSPG 9.might get lost (downstream of altered splice site)
13761487REPEATCSPG 10.might get lost (downstream of altered splice site)
14881608REPEATCSPG 11.might get lost (downstream of altered splice site)
15661566CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091729REPEATCSPG 12.might get lost (downstream of altered splice site)
17311830DOMAINCalx-beta.might get lost (downstream of altered splice site)
17351735CONFLICTI -> N (in Ref. 5; AAH31064).might get lost (downstream of altered splice site)
18611861CONFLICTS -> A (in Ref. 3; CAE46048).might get lost (downstream of altered splice site)
19071909MOTIFCell attachment site (Potential).might get lost (downstream of altered splice site)
20602174DOMAINC-type lectin.might get lost (downstream of altered splice site)
21512151DISULFIDBy similarity.might get lost (downstream of altered splice site)
21652165DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6543 / 6543
position (AA) of stopcodon in wt / mu AA sequence 2181 / 2181
position of stopcodon in wt / mu cDNA 7359 / 7359
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 817 / 817
chromosome 9
strand -1
last intron/exon boundary 7160
theoretical NMD boundary in CDS 6293
length of CDS 6543
coding sequence (CDS) position 1948
cDNA position
(for ins/del: last normal base / first normal base)		 2764
gDNA position
(for ins/del: last normal base / first normal base)		 86067
chromosomal position
(for ins/del: last normal base / first normal base)		 14824927
original gDNA sequence snippet AAGAGGCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAA
altered gDNA sequence snippet AAGAGGCTCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAA
original cDNA sequence snippet AAGAGGCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAA
altered cDNA sequence snippet AAGAGGCTCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAA
wildtype AA sequence MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA IPKEKDACKV
EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD EDTVKLRLYR FTERDTFIET
FILWVYLLEP DCNIIHMSNN VLEVPEFNGL SQAIDKNLLR FDYDRMASLE CTVSLDTART
RLPAHGQMVL GEPRPEEPRG DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF
LLMGLRYQHL DPPSPNIDYI SIQLDLTDTR SKIVYKKSES AWLPVYIRAG IPNQIPKAAF
MAVFILEVDQ FILTSLTTSV LDCEEDETPK PLLVFNITKA PLQGYVTHLL DHTRPISSFT
WKDLSDMQIA YQPPNSSHSE RRHDEVELEV YDFFFERSAP MTVHISIRTA DTNAPRVSWN
TGLSLLEGQS RAITWEQFQV VDNDDIGAVR LVTVGGLQHG WLTLRGGKGF LFTVADLQAG
VVRYHHDDSD STKDFVVFRI FDGHHSIRHK FPINVLPKDD SPPFLITNVV IELEEGQTIL
IQGSMLRASD VDASDDYIFF NITKPPQAGE IMKKPGPGLI GYPVHGFLQR DLFNGIIYYR
HFGGEIFEDS FQFVLWDSHE PPNLSVPQVA TIHITPVDDQ LPKEAPGVSR HLVVKETEVA
YITKKQLHFI DSESYDRELV YTITTPPFFS FSHRHLDAGK LFMVDSIPKV VKNPTALELR
SFTQHAVNYM KVAYMPPMQD IGPHCRDVQF TFSVSNQHGG TLHGICFNIT ILPVDNQVPE
AFTNPLKVTE GGQSIISTEH ILISDADTKL DNIDLSLREL PLHGRVELNG FPLNSGGTFS
WGDLHTLKVR YQHDGTEVLQ DDLLLEVTDG TNSAEFVLHV EVFPVNDEPP VLKADLMPVM
NCSEGGEVVI TSEYIFATDV DSDNLKLMFV IAREPQHGVV RRAGVTVDQF SQRDVISEAV
TYKHTGGEIG LMPCFDTITL VVSDGEAGPF VNGCCYNGPN PSVPLHASFP VYDLNITVYP
VDNQPPSIAI GPVFVVDEGC STALTVNHLS ATDPDTAADD LEFVLVSPPQ FGYLENILPS
VGFEKSNIGI SIDSFQWKDM NAFHINYVQS RHLRIEPTAD QFTVYVTDGK HHSLEIPFSI
IINPTNDEAP DFVVQNITVC EGQMKELDSS IISAVDLDIP QDALLFSITQ KPRHGLLIDR
GFSKDFSENK QPANPHQKHA PVHSFSMELL KTGMRLTYMH DDSESLADDF TIQLSDGKHK
ILKTISVEVI PVNDEKPMLS KKAEIAMNMG ETRIISSAIL SAIDEDSPRE KIYYVFERLP
QNGQLQLKIG RDWVPLSPGM KCTQEEVDLN LLRYTHTGAM DSQNQDSFTF YLWDGNNRSP
ALDCQITIKD MEKGDIVILT KPLVVSKGDR GFLTTTTLLA VDGTDKPEEL LYVITSPPRY
GQIEYVHYPG VPITNFSQMD VVGQTVCYVH KSKVTVSSDR FRFIISNGLR TEHGVFEITL
ETVDRALPVV TRNKGLRLAQ GAVGLLSPDL LQLTDPDTPA ENLTFLLVQL PQHGQLYLWG
TGLLQHNFTQ QDVDSKNVAY RHSGGDSQTD CFTFMATDGT NQGFIVNGRV WEEPVLFTIQ
VDQLDKTAPR ITLLHSPSQV GLLKNGCYGI YITSRVLKAS DPDTEDDQII FKILQGPKHG
HLENTTTGEF IHEKFSQKDL NSKTILYIIN PSLEVNSDTV EFQIMDPTGN SATPQILELK
WSHIEWSQTE YEVCENVGLL PLEIIRRGYS MDSAFVGIKV NQVSAAVGKD FTVIPSKLIQ
FDPGMSTKMW NIAITYDGLE EDDEVFEVIL NSPVNAVLGT KTKAAVKILD SKGGQCHPSY
SSNQSKHSTW EKGIWHLLPP GSSSSTTSGS FHLERRPLPS SMQLAVIRGD TLRGFDSTDL
SQRKLRTRGN GKTVRPSSVY RNGTDIIYNY HGIVSLKLED DSFPTHKRKA KVSIISQPQK
TIKVAELPQA DKVESTTDSH FPRQDQLPSF PKNCTLELKG LFHFEEGIQK LYQCNGIAWK
AWSPQTKDVE DKSCPAGWHQ HSGYCHILIT EQKGTWNAAA QACREQYLGN LVTVFSRQHM
RWLWDIGGRK SFWIGLNDQV HAGHWEWIGG EPVAFTNGRR GPSQRSKLGK SCVLVQRQGK
WQTKDCRRAK PHNYVCSRKL *
mutated AA sequence MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA IPKEKDACKV
EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD EDTVKLRLYR FTERDTFIET
FILWVYLLEP DCNIIHMSNN VLEVPEFNGL SQAIDKNLLR FDYDRMASLE CTVSLDTART
RLPAHGQMVL GEPRPEEPRG DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF
LLMGLRYQHL DPPSPNIDYI SIQLDLTDTR SKIVYKKSES AWLPVYIRAG IPNQIPKAAF
MAVFILEVDQ FILTSLTTSV LDCEEDETPK PLLVFNITKA PLQGYVTHLL DHTRPISSFT
WKDLSDMQIA YQPPNSSHSE RRHDEVELEV YDFFFERSAP MTVHISIRTA DTNAPRVSWN
TGLSLLEGQS RAITWEQFQV VDNDDIGAVR LVTVGGLQHG WLTLRGGKGF LFTVADLQAG
VVRYHHDDSD STKDFVVFRI FDGHHSIRHK FPINVLPKDD SPPFLITNVV IELEEGQTIL
IQGSMLRASD VDASDDYIFF NITKPPQAGE IMKKPGPGLI GYPVHGFLQR DLFNGIIYYR
HFGGEIFEDS FQFVLWDSHE PPNLSVPQVA TIHITPVDDQ LPKEAPGVSW HLVVKETEVA
YITKKQLHFI DSESYDRELV YTITTPPFFS FSHRHLDAGK LFMVDSIPKV VKNPTALELR
SFTQHAVNYM KVAYMPPMQD IGPHCRDVQF TFSVSNQHGG TLHGICFNIT ILPVDNQVPE
AFTNPLKVTE GGQSIISTEH ILISDADTKL DNIDLSLREL PLHGRVELNG FPLNSGGTFS
WGDLHTLKVR YQHDGTEVLQ DDLLLEVTDG TNSAEFVLHV EVFPVNDEPP VLKADLMPVM
NCSEGGEVVI TSEYIFATDV DSDNLKLMFV IAREPQHGVV RRAGVTVDQF SQRDVISEAV
TYKHTGGEIG LMPCFDTITL VVSDGEAGPF VNGCCYNGPN PSVPLHASFP VYDLNITVYP
VDNQPPSIAI GPVFVVDEGC STALTVNHLS ATDPDTAADD LEFVLVSPPQ FGYLENILPS
VGFEKSNIGI SIDSFQWKDM NAFHINYVQS RHLRIEPTAD QFTVYVTDGK HHSLEIPFSI
IINPTNDEAP DFVVQNITVC EGQMKELDSS IISAVDLDIP QDALLFSITQ KPRHGLLIDR
GFSKDFSENK QPANPHQKHA PVHSFSMELL KTGMRLTYMH DDSESLADDF TIQLSDGKHK
ILKTISVEVI PVNDEKPMLS KKAEIAMNMG ETRIISSAIL SAIDEDSPRE KIYYVFERLP
QNGQLQLKIG RDWVPLSPGM KCTQEEVDLN LLRYTHTGAM DSQNQDSFTF YLWDGNNRSP
ALDCQITIKD MEKGDIVILT KPLVVSKGDR GFLTTTTLLA VDGTDKPEEL LYVITSPPRY
GQIEYVHYPG VPITNFSQMD VVGQTVCYVH KSKVTVSSDR FRFIISNGLR TEHGVFEITL
ETVDRALPVV TRNKGLRLAQ GAVGLLSPDL LQLTDPDTPA ENLTFLLVQL PQHGQLYLWG
TGLLQHNFTQ QDVDSKNVAY RHSGGDSQTD CFTFMATDGT NQGFIVNGRV WEEPVLFTIQ
VDQLDKTAPR ITLLHSPSQV GLLKNGCYGI YITSRVLKAS DPDTEDDQII FKILQGPKHG
HLENTTTGEF IHEKFSQKDL NSKTILYIIN PSLEVNSDTV EFQIMDPTGN SATPQILELK
WSHIEWSQTE YEVCENVGLL PLEIIRRGYS MDSAFVGIKV NQVSAAVGKD FTVIPSKLIQ
FDPGMSTKMW NIAITYDGLE EDDEVFEVIL NSPVNAVLGT KTKAAVKILD SKGGQCHPSY
SSNQSKHSTW EKGIWHLLPP GSSSSTTSGS FHLERRPLPS SMQLAVIRGD TLRGFDSTDL
SQRKLRTRGN GKTVRPSSVY RNGTDIIYNY HGIVSLKLED DSFPTHKRKA KVSIISQPQK
TIKVAELPQA DKVESTTDSH FPRQDQLPSF PKNCTLELKG LFHFEEGIQK LYQCNGIAWK
AWSPQTKDVE DKSCPAGWHQ HSGYCHILIT EQKGTWNAAA QACREQYLGN LVTVFSRQHM
RWLWDIGGRK SFWIGLNDQV HAGHWEWIGG EPVAFTNGRR GPSQRSKLGK SCVLVQRQGK
WQTKDCRRAK PHNYVCSRKL *
speed 0.68 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999995305306092 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM095564)
  • known disease mutation: rs1989 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:14824927G>AN/A show variant in all transcripts   IGV
HGNC symbol FREM1
Ensembl transcript ID ENST00000422223
Genbank transcript ID NM_144966
UniProt peptide Q5H8C1
alteration type single base exchange
alteration region CDS
DNA changes c.1945C>T
cDNA.2761C>T
g.86067C>T
AA changes R649W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 649
frameshift no
known variant Reference ID: rs121912609
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1989 (pathogenic for BNAR syndrome|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM095564)

known disease mutation at this position, please check HGMD for details (HGMD ID CM095564)
known disease mutation at this position, please check HGMD for details (HGMD ID CM095564)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1931
4.1951
(flanking)0.0820.747
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased86076wt: 0.21 / mu: 0.38wt: CTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGGTG
mu: CTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGAGGTG		 ttgg|TTGT
Acc increased86072wt: 0.25 / mu: 0.31wt: GCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGA
mu: GCTCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGA		 gcat|TTGG
Acc marginally increased86075wt: 0.7630 / mu: 0.8478 (marginal change - not scored)wt: CCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGGT
mu: CCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGAGGT		 tttg|GTTG
Acc marginally increased86074wt: 0.3792 / mu: 0.4242 (marginal change - not scored)wt: TCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGG
mu: TCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAAACTGAGG		 attt|GGTT
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      649DQLPKEAPGVSRHLVVKETEVAYI
mutated  not conserved    649DQLPKEAPGVSWHLVVKETEVAY
Ptroglodytes  all identical  ENSPTRG00000020782  647DQLPKEAPGVSRHLVVKETEVAY
Mmulatta  all identical  ENSMMUG00000008128  647DQLPKEAPGVSRHLVVKETEVAY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000059049  655DQLPKEAPGISRHLVVKETEVAY
Ggallus  all identical  ENSGALG00000005426  596DQLPKEAPGVTRHLVV
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  not conserved  C48E7.6  378---LKLLHHSSAL
Xtropicalis  all identical  ENSXETG00000003300  650DQLPIEAPGTVRHLMVKENEVVY
protein features
start (aa)end (aa)featuredetails 
622758REPEATCSPG 4.lost
759869REPEATCSPG 5.might get lost (downstream of altered splice site)
8701005REPEATCSPG 6.might get lost (downstream of altered splice site)
10061129REPEATCSPG 7.might get lost (downstream of altered splice site)
10141014CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11301256REPEATCSPG 8.might get lost (downstream of altered splice site)
12571375REPEATCSPG 9.might get lost (downstream of altered splice site)
13761487REPEATCSPG 10.might get lost (downstream of altered splice site)
14881608REPEATCSPG 11.might get lost (downstream of altered splice site)
15661566CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091729REPEATCSPG 12.might get lost (downstream of altered splice site)
17311830DOMAINCalx-beta.might get lost (downstream of altered splice site)
17351735CONFLICTI -> N (in Ref. 5; AAH31064).might get lost (downstream of altered splice site)
18611861CONFLICTS -> A (in Ref. 3; CAE46048).might get lost (downstream of altered splice site)
19071909MOTIFCell attachment site (Potential).might get lost (downstream of altered splice site)
20602174DOMAINC-type lectin.might get lost (downstream of altered splice site)
21512151DISULFIDBy similarity.might get lost (downstream of altered splice site)
21652165DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6540 / 6540
position (AA) of stopcodon in wt / mu AA sequence 2180 / 2180
position of stopcodon in wt / mu cDNA 7356 / 7356
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 817 / 817
chromosome 9
strand -1
last intron/exon boundary 7157
theoretical NMD boundary in CDS 6290
length of CDS 6540
coding sequence (CDS) position 1945
cDNA position
(for ins/del: last normal base / first normal base)		 2761
gDNA position
(for ins/del: last normal base / first normal base)		 86067
chromosomal position
(for ins/del: last normal base / first normal base)		 14824927
original gDNA sequence snippet AAGAGGCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAA
altered gDNA sequence snippet AAGAGGCTCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAA
original cDNA sequence snippet AAGAGGCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAA
altered cDNA sequence snippet AAGAGGCTCCTGGAGTTTCTTGGCATTTGGTTGTCAAGGAA
wildtype AA sequence MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA IPKEKDACKV
EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD EDTVKLRLYR FTERDTFIET
FILWVYLLEP DCNIIHMSNN VLEVPEFNGL SQAIDKNLLR FDYDRMASLE CTVSLDTART
RLPAHGQMVL GEPRPEEPRG DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF
LLMGLRYQHL DPPSPNIDYI SIQLDLTDTR SKIVYKSESA WLPVYIRAGI PNQIPKAAFM
AVFILEVDQF ILTSLTTSVL DCEEDETPKP LLVFNITKAP LQGYVTHLLD HTRPISSFTW
KDLSDMQIAY QPPNSSHSER RHDEVELEVY DFFFERSAPM TVHISIRTAD TNAPRVSWNT
GLSLLEGQSR AITWEQFQVV DNDDIGAVRL VTVGGLQHGW LTLRGGKGFL FTVADLQAGV
VRYHHDDSDS TKDFVVFRIF DGHHSIRHKF PINVLPKDDS PPFLITNVVI ELEEGQTILI
QGSMLRASDV DASDDYIFFN ITKPPQAGEI MKKPGPGLIG YPVHGFLQRD LFNGIIYYRH
FGGEIFEDSF QFVLWDSHEP PNLSVPQVAT IHITPVDDQL PKEAPGVSRH LVVKETEVAY
ITKKQLHFID SESYDRELVY TITTPPFFSF SHRHLDAGKL FMVDSIPKVV KNPTALELRS
FTQHAVNYMK VAYMPPMQDI GPHCRDVQFT FSVSNQHGGT LHGICFNITI LPVDNQVPEA
FTNPLKVTEG GQSIISTEHI LISDADTKLD NIDLSLRELP LHGRVELNGF PLNSGGTFSW
GDLHTLKVRY QHDGTEVLQD DLLLEVTDGT NSAEFVLHVE VFPVNDEPPV LKADLMPVMN
CSEGGEVVIT SEYIFATDVD SDNLKLMFVI AREPQHGVVR RAGVTVDQFS QRDVISEAVT
YKHTGGEIGL MPCFDTITLV VSDGEAGPFV NGCCYNGPNP SVPLHASFPV YDLNITVYPV
DNQPPSIAIG PVFVVDEGCS TALTVNHLSA TDPDTAADDL EFVLVSPPQF GYLENILPSV
GFEKSNIGIS IDSFQWKDMN AFHINYVQSR HLRIEPTADQ FTVYVTDGKH HSLEIPFSII
INPTNDEAPD FVVQNITVCE GQMKELDSSI ISAVDLDIPQ DALLFSITQK PRHGLLIDRG
FSKDFSENKQ PANPHQKHAP VHSFSMELLK TGMRLTYMHD DSESLADDFT IQLSDGKHKI
LKTISVEVIP VNDEKPMLSK KAEIAMNMGE TRIISSAILS AIDEDSPREK IYYVFERLPQ
NGQLQLKIGR DWVPLSPGMK CTQEEVDLNL LRYTHTGAMD SQNQDSFTFY LWDGNNRSPA
LDCQITIKDM EKGDIVILTK PLVVSKGDRG FLTTTTLLAV DGTDKPEELL YVITSPPRYG
QIEYVHYPGV PITNFSQMDV VGQTVCYVHK SKVTVSSDRF RFIISNGLRT EHGVFEITLE
TVDRALPVVT RNKGLRLAQG AVGLLSPDLL QLTDPDTPAE NLTFLLVQLP QHGQLYLWGT
GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC FTFMATDGTN QGFIVNGRVW EEPVLFTIQV
DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY ITSRVLKASD PDTEDDQIIF KILQGPKHGH
LENTTTGEFI HEKFSQKDLN SKTILYIINP SLEVNSDTVE FQIMDPTGNS ATPQILELKW
SHIEWSQTEY EVCENVGLLP LEIIRRGYSM DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF
DPGMSTKMWN IAITYDGLEE DDEVFEVILN SPVNAVLGTK TKAAVKILDS KGGQCHPSYS
SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF HLERRPLPSS MQLAVIRGDT LRGFDSTDLS
QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH GIVSLKLEDD SFPTHKRKAK VSIISQPQKT
IKVAELPQAD KVESTTDSHF PRQDQLPSFP KNCTLELKGL FHFEEGIQKL YQCNGIAWKA
WSPQTKDVED KSCPAGWHQH SGYCHILITE QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR
WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE PVAFTNGRRG PSQRSKLGKS CVLVQRQGKW
QTKDCRRAKP HNYVCSRKL*
mutated AA sequence MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA IPKEKDACKV
EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD EDTVKLRLYR FTERDTFIET
FILWVYLLEP DCNIIHMSNN VLEVPEFNGL SQAIDKNLLR FDYDRMASLE CTVSLDTART
RLPAHGQMVL GEPRPEEPRG DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF
LLMGLRYQHL DPPSPNIDYI SIQLDLTDTR SKIVYKSESA WLPVYIRAGI PNQIPKAAFM
AVFILEVDQF ILTSLTTSVL DCEEDETPKP LLVFNITKAP LQGYVTHLLD HTRPISSFTW
KDLSDMQIAY QPPNSSHSER RHDEVELEVY DFFFERSAPM TVHISIRTAD TNAPRVSWNT
GLSLLEGQSR AITWEQFQVV DNDDIGAVRL VTVGGLQHGW LTLRGGKGFL FTVADLQAGV
VRYHHDDSDS TKDFVVFRIF DGHHSIRHKF PINVLPKDDS PPFLITNVVI ELEEGQTILI
QGSMLRASDV DASDDYIFFN ITKPPQAGEI MKKPGPGLIG YPVHGFLQRD LFNGIIYYRH
FGGEIFEDSF QFVLWDSHEP PNLSVPQVAT IHITPVDDQL PKEAPGVSWH LVVKETEVAY
ITKKQLHFID SESYDRELVY TITTPPFFSF SHRHLDAGKL FMVDSIPKVV KNPTALELRS
FTQHAVNYMK VAYMPPMQDI GPHCRDVQFT FSVSNQHGGT LHGICFNITI LPVDNQVPEA
FTNPLKVTEG GQSIISTEHI LISDADTKLD NIDLSLRELP LHGRVELNGF PLNSGGTFSW
GDLHTLKVRY QHDGTEVLQD DLLLEVTDGT NSAEFVLHVE VFPVNDEPPV LKADLMPVMN
CSEGGEVVIT SEYIFATDVD SDNLKLMFVI AREPQHGVVR RAGVTVDQFS QRDVISEAVT
YKHTGGEIGL MPCFDTITLV VSDGEAGPFV NGCCYNGPNP SVPLHASFPV YDLNITVYPV
DNQPPSIAIG PVFVVDEGCS TALTVNHLSA TDPDTAADDL EFVLVSPPQF GYLENILPSV
GFEKSNIGIS IDSFQWKDMN AFHINYVQSR HLRIEPTADQ FTVYVTDGKH HSLEIPFSII
INPTNDEAPD FVVQNITVCE GQMKELDSSI ISAVDLDIPQ DALLFSITQK PRHGLLIDRG
FSKDFSENKQ PANPHQKHAP VHSFSMELLK TGMRLTYMHD DSESLADDFT IQLSDGKHKI
LKTISVEVIP VNDEKPMLSK KAEIAMNMGE TRIISSAILS AIDEDSPREK IYYVFERLPQ
NGQLQLKIGR DWVPLSPGMK CTQEEVDLNL LRYTHTGAMD SQNQDSFTFY LWDGNNRSPA
LDCQITIKDM EKGDIVILTK PLVVSKGDRG FLTTTTLLAV DGTDKPEELL YVITSPPRYG
QIEYVHYPGV PITNFSQMDV VGQTVCYVHK SKVTVSSDRF RFIISNGLRT EHGVFEITLE
TVDRALPVVT RNKGLRLAQG AVGLLSPDLL QLTDPDTPAE NLTFLLVQLP QHGQLYLWGT
GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC FTFMATDGTN QGFIVNGRVW EEPVLFTIQV
DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY ITSRVLKASD PDTEDDQIIF KILQGPKHGH
LENTTTGEFI HEKFSQKDLN SKTILYIINP SLEVNSDTVE FQIMDPTGNS ATPQILELKW
SHIEWSQTEY EVCENVGLLP LEIIRRGYSM DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF
DPGMSTKMWN IAITYDGLEE DDEVFEVILN SPVNAVLGTK TKAAVKILDS KGGQCHPSYS
SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF HLERRPLPSS MQLAVIRGDT LRGFDSTDLS
QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH GIVSLKLEDD SFPTHKRKAK VSIISQPQKT
IKVAELPQAD KVESTTDSHF PRQDQLPSFP KNCTLELKGL FHFEEGIQKL YQCNGIAWKA
WSPQTKDVED KSCPAGWHQH SGYCHILITE QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR
WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE PVAFTNGRRG PSQRSKLGKS CVLVQRQGKW
QTKDCRRAKP HNYVCSRKL*
speed 0.61 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

Problems