Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999987993 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:144997927G>AN/A show variant in all transcripts   IGV
HGNC symbol PLEC
Ensembl transcript ID ENST00000354958
Genbank transcript ID NM_201379
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.6104C>T
cDNA.6253C>T
g.52976C>T
AA changes A2035V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2035
frameshift no
known variant Reference ID: rs7002002
databasehomozygous (A/A)heterozygousallele carriers
1000G207741948
ExAC2945947212417
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.9580.002
1.3610.015
(flanking)1.1180.015
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 1256
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2035RLQAEEKAHAFAVQQKEQELQQTL
mutated  not conserved    2035RLQAEEKAHAFVVQQKE
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000000388  2194RLQAEEKAHAFAVQQKEQELQQT
Fcatus  no alignment  ENSFCAG00000001046  n/a
Mmusculus  not conserved  ENSMUSG00000022565  2202RLQAEEKAHAFVVQQREEELQQT
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000003715  2205CSAAEQQVQSVLAQQKEDTVVQ-
Drerio  not conserved  ENSDARG00000021987  2085AITAEQQVQSVLVQQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
14692756COILEDPotential.lost
14712755REGIONCentral fibrous rod domain.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 13578 / 13578
position (AA) of stopcodon in wt / mu AA sequence 4526 / 4526
position of stopcodon in wt / mu cDNA 13727 / 13727
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 150 / 150
chromosome 8
strand -1
last intron/exon boundary 7509
theoretical NMD boundary in CDS 7309
length of CDS 13578
coding sequence (CDS) position 6104
cDNA position
(for ins/del: last normal base / first normal base)		 6253
gDNA position
(for ins/del: last normal base / first normal base)		 52976
chromosomal position
(for ins/del: last normal base / first normal base)		 144997927
original gDNA sequence snippet AGAGAAGGCACACGCCTTCGCGGTGCAGCAGAAGGAGCAGG
altered gDNA sequence snippet AGAGAAGGCACACGCCTTCGTGGTGCAGCAGAAGGAGCAGG
original cDNA sequence snippet AGAGAAGGCACACGCCTTCGCGGTGCAGCAGAAGGAGCAGG
altered cDNA sequence snippet AGAGAAGGCACACGCCTTCGTGGTGCAGCAGAAGGAGCAGG
wildtype AA sequence MDPSRAIQNE ISSLKDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV
LSGDSLPREK GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL
HFQISDIQVS GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP
LLIDMNKVYR QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM
PRVPDVQDGV RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL
KFKEMELPAK EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK
QLRSEFERLE CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL
DKADSMIRLL FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ
VAQVTLQSVQ RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH
QSIEEFRAKI ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV
AAATKELMWL NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL
LREDHPARPT VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ
EALRRKYSCD RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP
MRGRLPLLAV CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN
QEAQEAVTRL EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ
RQALHSLELH YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC
QRCISELKDI RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR
LSAEAEKVLA LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE
EVLRAHEEQL KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER
LQQRHGERDV EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW
LQDARRRQEQ IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY
ELQLVTYKAQ LEPVASPAKK PKVQSGSESV IQEYVDLRTH YSELTTLTSQ YIKFISETLR
RMEEEERLAE QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV
RREEAAVDAQ QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE
ATERQRGGAE GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK
AEAEAAREKQ RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR
ASFAEKTAQL ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL
RLRLQAEEVA QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE
GTAQQRLAAE QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA
EMEVLLASKA RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE
DAARQRAEAE RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE
QAAQHKADIE ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA
ELELELGRIR SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR
QRKAALEEVE RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFAVQQKE
QELQQTLQQE QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE
EQAQARAQAQ AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA
QVEQELTTLR LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK
LKARIEAENR ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA
QQRALAEKML KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ
GFQRTLEAER QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL
ATQEKVTLVQ TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE
QLLQETQALQ QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME
QERQRLVASM EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE
EQHRAALAHS EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VSAQRLQEAG
ILSAEELQRL AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS
PGTALILLEA QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT
GQQISLFQAM QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV
LADPSDDTKG FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR
DVFEKATVSA PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV
VEEQEQKGRL CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG
ANVIAGVWLE EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV
RAGLVGPEFH EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG
IVDPSKSHRV PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD
QLTGLSLLPL SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF
TAEQRQELLR QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV
LSRAQFEQLK DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA
TTAALLLEAQ AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG
STISLFQAMQ KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL
ADPSDDTKGF FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE
TRRAFEETQI DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII
IEIIEKTEII RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA
WCYLYGTGSV AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL
TVDEAVRKGL VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA
QLATGGIVDP RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR
RCRRDDGTGQ LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT
KNLQKFLEGT SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG
LKLTVEEAVR MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL
LEAQIATGGI IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL
QLMERCITDP QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL
IDHQTYLELS EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY
RAGTLSITEF ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG
ILDTETLEKV SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD
KIMVDRINLA QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT
PGRVPLDEAL QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR
LLEAAAQSTK GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY
SSSGYGRRYA SGSSASLGGP ESAVA*
mutated AA sequence MDPSRAIQNE ISSLKDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV
LSGDSLPREK GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL
HFQISDIQVS GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP
LLIDMNKVYR QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM
PRVPDVQDGV RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL
KFKEMELPAK EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK
QLRSEFERLE CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL
DKADSMIRLL FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ
VAQVTLQSVQ RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH
QSIEEFRAKI ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV
AAATKELMWL NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL
LREDHPARPT VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ
EALRRKYSCD RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP
MRGRLPLLAV CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN
QEAQEAVTRL EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ
RQALHSLELH YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC
QRCISELKDI RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR
LSAEAEKVLA LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE
EVLRAHEEQL KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER
LQQRHGERDV EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW
LQDARRRQEQ IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY
ELQLVTYKAQ LEPVASPAKK PKVQSGSESV IQEYVDLRTH YSELTTLTSQ YIKFISETLR
RMEEEERLAE QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV
RREEAAVDAQ QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE
ATERQRGGAE GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK
AEAEAAREKQ RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR
ASFAEKTAQL ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL
RLRLQAEEVA QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE
GTAQQRLAAE QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA
EMEVLLASKA RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE
DAARQRAEAE RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE
QAAQHKADIE ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA
ELELELGRIR SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR
QRKAALEEVE RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFVVQQKE
QELQQTLQQE QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE
EQAQARAQAQ AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA
QVEQELTTLR LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK
LKARIEAENR ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA
QQRALAEKML KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ
GFQRTLEAER QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL
ATQEKVTLVQ TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE
QLLQETQALQ QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME
QERQRLVASM EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE
EQHRAALAHS EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VSAQRLQEAG
ILSAEELQRL AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS
PGTALILLEA QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT
GQQISLFQAM QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV
LADPSDDTKG FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR
DVFEKATVSA PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV
VEEQEQKGRL CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG
ANVIAGVWLE EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV
RAGLVGPEFH EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG
IVDPSKSHRV PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD
QLTGLSLLPL SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF
TAEQRQELLR QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV
LSRAQFEQLK DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA
TTAALLLEAQ AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG
STISLFQAMQ KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL
ADPSDDTKGF FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE
TRRAFEETQI DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII
IEIIEKTEII RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA
WCYLYGTGSV AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL
TVDEAVRKGL VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA
QLATGGIVDP RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR
RCRRDDGTGQ LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT
KNLQKFLEGT SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG
LKLTVEEAVR MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL
LEAQIATGGI IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL
QLMERCITDP QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL
IDHQTYLELS EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY
RAGTLSITEF ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG
ILDTETLEKV SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD
KIMVDRINLA QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT
PGRVPLDEAL QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR
LLEAAAQSTK GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY
SSSGYGRRYA SGSSASLGGP ESAVA*
speed 1.30 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