Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.99936262490073 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:64519455A>GN/A show variant in all transcripts   IGV
HGNC symbol SYNE2
Ensembl transcript ID ENST00000357395
Genbank transcript ID N/A
UniProt peptide Q8WXH0
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.9054A>G
g.199773A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs3829767
databasehomozygous (G/G)heterozygousallele carriers
1000G12298732102
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8840.317
-1.0190.008
(flanking)1.7140.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -698) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased199766wt: 0.9506 / mu: 0.9631 (marginal change - not scored)wt: GTGGAACACAAGATA
mu: GTGGAACACAAGGTA		 GGAA|caca
Donor marginally increased199772wt: 0.9944 / mu: 0.9980 (marginal change - not scored)wt: CACAAGATAAAGTTT
mu: CACAAGGTAAAGTTT		 CAAG|ataa
Donor gained1997670.82mu: TGGAACACAAGGTAA GAAC|acaa
distance from splice site 921
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1286DOMAINActin-binding.might get lost (downstream of altered splice site)
16834TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
31136DOMAINCH 1.might get lost (downstream of altered splice site)
181286DOMAINCH 2.might get lost (downstream of altered splice site)
233255COILEDPotential.might get lost (downstream of altered splice site)
306323COILEDPotential.might get lost (downstream of altered splice site)
461477COILEDPotential.might get lost (downstream of altered splice site)
668668CONFLICTMissing (in Ref. 3).might get lost (downstream of altered splice site)
810909COILEDPotential.might get lost (downstream of altered splice site)
841841MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
941972COILEDPotential.might get lost (downstream of altered splice site)
955955MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
10081041COILEDPotential.might get lost (downstream of altered splice site)
10871087CONFLICTM -> T (in Ref. 3).might get lost (downstream of altered splice site)
11941222COILEDPotential.might get lost (downstream of altered splice site)
12991332COILEDPotential.might get lost (downstream of altered splice site)
14621494COILEDPotential.might get lost (downstream of altered splice site)
15661602COILEDPotential.might get lost (downstream of altered splice site)
16581708COILEDPotential.might get lost (downstream of altered splice site)
17471771COILEDPotential.might get lost (downstream of altered splice site)
17821804COILEDPotential.might get lost (downstream of altered splice site)
19231965COILEDPotential.might get lost (downstream of altered splice site)
20072035COILEDPotential.might get lost (downstream of altered splice site)
21762205COILEDPotential.might get lost (downstream of altered splice site)
22822369COILEDPotential.might get lost (downstream of altered splice site)
24222478COILEDPotential.might get lost (downstream of altered splice site)
25892650COILEDPotential.might get lost (downstream of altered splice site)
26552655MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
26962717COILEDPotential.might get lost (downstream of altered splice site)
28022835COILEDPotential.might get lost (downstream of altered splice site)
28662975COILEDPotential.might get lost (downstream of altered splice site)
30143057COILEDPotential.might get lost (downstream of altered splice site)
30873132COILEDPotential.might get lost (downstream of altered splice site)
31153115CONFLICTF -> S (in Ref. 1; AAL33548).might get lost (downstream of altered splice site)
31933193CONFLICTE -> G (in Ref. 1; AAL33548).might get lost (downstream of altered splice site)
32073241COILEDPotential.might get lost (downstream of altered splice site)
32973428COILEDPotential.might get lost (downstream of altered splice site)
34643505COILEDPotential.might get lost (downstream of altered splice site)
35533584COILEDPotential.might get lost (downstream of altered splice site)
36553723COILEDPotential.might get lost (downstream of altered splice site)
37783799COILEDPotential.might get lost (downstream of altered splice site)
38533911COILEDPotential.might get lost (downstream of altered splice site)
39513951CONFLICTQ -> L (in Ref. 2; AAL33802).might get lost (downstream of altered splice site)
39714069COILEDPotential.might get lost (downstream of altered splice site)
40014001CONFLICTW -> Q (in Ref. 3; AAN60443).might get lost (downstream of altered splice site)
41084108MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
41104110MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
41114111MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
41584158CONFLICTS -> F (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
42094209CONFLICTI -> T (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
42724299COILEDPotential.might get lost (downstream of altered splice site)
43074339COILEDPotential.might get lost (downstream of altered splice site)
43274327CONFLICTE -> Q (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
44184418CONFLICTN -> K (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
44934536COILEDPotential.might get lost (downstream of altered splice site)
46364701COILEDPotential.might get lost (downstream of altered splice site)
47134713CONFLICTE -> G (in Ref. 1; AAL33548).might get lost (downstream of altered splice site)
47334733CONFLICTP -> S (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
48074807CONFLICTN -> I (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
48264826CONFLICTS -> P (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
48314861COILEDPotential.might get lost (downstream of altered splice site)
49114944COILEDPotential.might get lost (downstream of altered splice site)
49445053REPEATSpectrin 1.might get lost (downstream of altered splice site)
50545167REPEATSpectrin 2.might get lost (downstream of altered splice site)
51665166CONFLICTE -> D (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
51705274REPEATSpectrin 3.might get lost (downstream of altered splice site)
53085346COILEDPotential.might get lost (downstream of altered splice site)
54285445COILEDPotential.might get lost (downstream of altered splice site)
55055529COILEDPotential.might get lost (downstream of altered splice site)
56465646CONFLICTT -> A (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
57275727CONFLICTK -> R (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
58525914REPEATSpectrin 4.might get lost (downstream of altered splice site)
59176019REPEATSpectrin 5.might get lost (downstream of altered splice site)
60226133REPEATSpectrin 6.might get lost (downstream of altered splice site)
61366242REPEATSpectrin 7.might get lost (downstream of altered splice site)
62456349REPEATSpectrin 8.might get lost (downstream of altered splice site)
63616361MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
65516658REPEATSpectrin 9.might get lost (downstream of altered splice site)
66976770COILEDPotential.might get lost (downstream of altered splice site)
68266885DOMAINKASH.might get lost (downstream of altered splice site)
68356855TRANSMEMHelical; Anchor for type IV membrane protein; (Potential).might get lost (downstream of altered splice site)
68566885TOPO_DOMPerinuclear space (Potential).might get lost (downstream of altered splice site)
68676870TURNmight get lost (downstream of altered splice site)
68716873STRANDmight get lost (downstream of altered splice site)
68756881STRANDmight 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 11145 / 11145
chromosome 14
strand 1
last intron/exon boundary 20750
theoretical NMD boundary in CDS 9555
length of CDS 9813
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 9054
gDNA position
(for ins/del: last normal base / first normal base)		 199773
chromosomal position
(for ins/del: last normal base / first normal base)		 64519455
original gDNA sequence snippet GTAATGAAGTGGAACACAAGATAAAGTTTTGCAGACAATTC
altered gDNA sequence snippet GTAATGAAGTGGAACACAAGGTAAAGTTTTGCAGACAATTC
original cDNA sequence snippet GTAATGAAGTGGAACACAAGATAAAGTTTTGCAGACAATTC
altered cDNA sequence snippet GTAATGAAGTGGAACACAAGGTAAAGTTTTGCAGACAATTC
wildtype AA sequence MEKLRIKYSE MYTIVPAEIE SQVEECRKAL EDIDEKISNE VLKSSPSYAM RRKIEEINNG
LHNVEKMLQQ KSKNIEKAQE IQKKMWDELD LWHSKLNELD SEVQDIVEQD PGQAQEWMDN
LMIPFQQYQQ VSQRAECRTS QLNKATVKME EYSDLLKSTE AWIENTSHLL ANPADYDSLR
TLSHHASTVQ DSKCFRSGPR PNIYVSYYVT VIQMALEDSE QKHNLLHSIF MDLEDLSIIF
ETDELTQSIQ ELSNQVTALQ QKIMESLPQI QRMADDVVAI ESEVKSMEKR VSKIKTILLS
KEIFDFSPEE HLKHGEVILE NIRPMKKTIA EIVSYQVELR LPQTGMKPLP VFQRTNQLLQ
DIKLLENVTQ EQNELLKVVI KQTNEWDEEI ENLKQILNNY SAQFSLEHMS PDQADKLPQL
QGEIERMEKQ ILSLNQRKED LLVDLKATVL NLHQHLKQEQ EGVERDRLPA VTSEEGGVAE
RDASERKLNR RGSMSYLAAV EEEVEESSVK SDNGDEKAEP SPQSWSSLWK HDKDMEEDRA
SSSSGTIVQE AYGKISTSDN SMAQILTPDS LNTEQGPECS LRPNQTEEGT TPPIEADTLD
SSDAQGGLEP RVEKTRPEPT EVLHACKTQV AELELWLQQA NVAVEPETLN ADMQQVLEQQ
LVGCQAMLTE IEHKVAFLLE TCKDQGLGDN GATQHEAEAL SLKLKTVKCN LEKVQMMLQE
KHSEDQHPTI LKKSSEPEHQ EALQPVNLSE LESIVTERPQ FSRQKDFQQQ QVLELKPMEQ
KDFIKFIEFN AKKMWPQYCQ HDNDTTQESS ASNQASSPEN DVPDSILSPQ GQNGDKWQYL
HHELSSKIKL PLPQLVEPQV STNMGILPSV TMYNFRYPTT EELKTYTTQL EDLRQEASNL
QTQENMTEEA YINLDKKLFE LFLTLSQCLS SVEEMLEMPR LYREDGSGQQ VHYETLALEL
KKLYLALSDK KGDLLKAMTW PGENTNLLLE CFDNLQVCLE HTQAAAVCRS KSLKAGLDYN
RSYQNEIKRL YHQLIKSKTS LQQSLNEISG QSVAEQLQKA DAYTVELENA ESRVAKLRDE
GERLHLPYAL LQEVYKLEDV LDSMWGMLRA RYTELSSPFV TESQQDALLQ GMVELVKIGK
EKLAHGHLKQ TKSKVALQAQ IENHKVFFQK LVADMLLIQA YSAKILPSLL QNRETFWAEQ
VTEVKILEEK SRQCGMKLQS LLQKWEEFDE NYASLEKDLE ILISTLPSVS LVEETEERLV
ERISFYQQIK RNIGGKHARL YQTLNEGKQL VASVSCPELE GQIAKLEEQW LSLNKKIDHE
LHRLQALLKH LLSYNRDSDQ LTKWLESSQH TLNYWKEQSL NVSQDLDTIR SNINNFFEFS
KEVDEKSSLK TAVISIGNQL LHLKETDTAT LRASLAQFEQ KWTMLITQLP DIQEKLHQLQ
MEKLPSRKAI TEMISWMNNV EHQTSDEDSV HSPSSASQVK HLLQKHKEFR MEMDYKQWIV
DFVNQSLLQL STCDVESKRY ERTEFAEHLG EMNRQWHRVH GMLNRKIQHL EQLLESITES
ENKIQILNNW LEAQEERLKT LQKPESVISV QKLLLDCQDI ENQLAIKSKA LDELKQSYLT
LESGAVPLLE DTASRIDELF QKRSSVLTQV NQLKTSMQSV LQEWKIYDQL YDEVNMMTIR
FWYCMEHSKP VVLSLETLRC QVENLQSLQD EAESSEGSWE KLQEVIGKLK GLCPSVAEII
EEKCQNTHKR WTQVNQAIAD QLQKAQSLLQ LWKAYSNAHG EAAARLKQQE AKFQQLANIS
MSGNNLAEIL PPALQDIKEL QHDVQKTKEA FLQNSSVLDR LPQPAESSTH MLLPGPLHSL
QRAAYLEKML LVKANEFEFV LSQFKDFGVR LESLKGLIMH EEENLDRLHQ QEKENPDSFL
NHVLALTAQS PDIEHLNEVS LKLPLSDVAV KTLQNMNRQW IRATATALER CSELQGIGLN
EKFLYCCEKW IQLLEKIEEA LKVDVANSLP ELLEQQKTYK MLEAEVSINQ TIADSYVTQS
LQLLDTTEIE NRPEFITEFS KLTDRWQNAV QGVRQRKGDV DGLVRQWQDF TTSVENLFRF
LTDTSHLLSA VKGQERFSLY QTRSLIHELK NKEIHFQRRR TTCALTLEAG EKLLLTTDLK
TKESVGRRIS QLQDSWKDME PQLAEMIKQF QSTVETWDQC EKKIKELKSR LQVLKAQSED
PLPELHEDLH NEKELIKELE QSLASWTQNL KELQTMKADL TRHVLVEDVM VLKEQIEHLH
RQWEDLCLRV AIRKQEIEDR LNTWVVFNEK NKELCAWLVQ MENKVLQTAD ISIEEMIEKL
QKDCMEEINL FSENKLQLKQ MGDQLIKASN KSRAAEIDDK LNKINDRWQH LFDVIGSRVK
KLKETFAFIQ QLDKNMSNLR TWLARIESEL SKPVVYDVCD DQEIQKRLAE QQDLQRDIEQ
HSAGVESVFN ICDVLLHDSD ACANETECDS IQQTTRSLDR RWRNICAMSM ERRMKIEETW
RLWQKFLDDY SRFEDWLKSA ERTAACPNSS EVLYTSAKEE LKRFEAFQRQ IHERLTQLEL
INKQYRRLAR ENRTDTASRL KQMVHEGNQR WDNLQRRVTA VLRRLRHFTN QREEFEGTRE
SILVWLTEMD LQLTNVEHFS ESDADDKMRQ LNGFQQEITL NTNKIDQLIV FGEQLIQKSE
PLDAVLIEDE LEELHRYCQE VFGRVSRFHR RLTSCTPGLE DEKEASENET DMEDPREIQT
DSWRKRGESE EPSSPQSLCH LVAPGHERSG CETPVSVDSI PLEWDHTGDV GGSSSHEEDE
EGPYYSALSG KSISDGHSWH VPDSPSCPEH HYKQMEGDRN VPPVPPASST PYKPPYGKLL
LPPGTDGGKE GPRVLNGNPQ QEDGGLAGIT EQQSGAFDRW EMIQAQELHN KLKIKQNLQQ
LNSDISAITT WLKKTEAELE MLKMAKPPSD IQEIELRVKR LQEILKAFDT YKALVVSVNV
SSKEFLQTES PESTELQSRL RQLSLLWEAA QGAVDSWRGG LRQSLMQCQD FHQLSQNLLL
WLASAKNRRQ KAHVTDPKAD PRALLECRRE LMQLEKELVE RQPQVDMLQE ISNSLLIKGH
GEDCIEAEEK VHVIEKKLKQ LREQVSQDLM ALQGTQNPAS PLPSFDEVDS GDQPPATSVP
APRAKQFRAV RTTEGEEETE SRVPGSTRPQ RSFLSRVVRA ALPLQLLLLL LLLLACLLPS
SEEDYSCTQA NNFARSFYPM LRYTNGPPPT *
mutated AA sequence N/A
speed 1.07 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