Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:101252680T>CN/A show variant in all transcripts   IGV
HGNC symbol SPAG1
Ensembl transcript ID ENST00000251809
Genbank transcript ID NM_172218
UniProt peptide Q07617
alteration type single base exchange
alteration region CDS
DNA changes c.2330T>C
cDNA.2416T>C
g.82547T>C
AA changes M777T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 777
frameshift no
known variant Reference ID: rs6511
databasehomozygous (C/C)heterozygousallele carriers
1000G100811262134
ExAC23282-137979485
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0580
-0.9270
(flanking)-2.7720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased82547wt: 0.9862 / mu: 0.9926 (marginal change - not scored)wt: CTCCATGGGATGCCT
mu: CTCCACGGGATGCCT		 CCAT|ggga
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      777EEPGRPAGEVSMGCLASEKGGKSS
mutated  not conserved    777EEPGRPAGEVSTGCL
Ptroglodytes  not conserved  ENSPTRG00000020471  776EEPGRPAGEVSTGC
Mmulatta  not conserved  ENSMMUG00000004386  788RPAGEVSTGCLASEKGDKS
Fcatus  not conserved  ENSFCAG00000001870  779EEPERTSEEVSNDCFA
Mmusculus  not conserved  ENSMUSG00000037617  760EEPERPA-EASAT
Ggallus  not conserved  ENSGALG00000016037  803QLETAEDVVTDNLSSKEAVQK
Trubripes  not conserved  ENSTRUG00000011262  755EAPSVPDSE-----
Drerio  no alignment  ENSDARG00000004017  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000017876  763VD-----GEVSDNKHCN--GQER
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2781 / 2781
position (AA) of stopcodon in wt / mu AA sequence 927 / 927
position of stopcodon in wt / mu cDNA 2867 / 2867
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 87 / 87
chromosome 8
strand 1
last intron/exon boundary 2736
theoretical NMD boundary in CDS 2599
length of CDS 2781
coding sequence (CDS) position 2330
cDNA position
(for ins/del: last normal base / first normal base)		 2416
gDNA position
(for ins/del: last normal base / first normal base)		 82547
chromosomal position
(for ins/del: last normal base / first normal base)		 101252680
original gDNA sequence snippet ACCTGCAGGGGAGGTCTCCATGGGATGCCTTGCTTCTGAGA
altered gDNA sequence snippet ACCTGCAGGGGAGGTCTCCACGGGATGCCTTGCTTCTGAGA
original cDNA sequence snippet ACCTGCAGGGGAGGTCTCCATGGGATGCCTTGCTTCTGAGA
altered cDNA sequence snippet ACCTGCAGGGGAGGTCTCCACGGGATGCCTTGCTTCTGAGA
wildtype AA sequence MTTKDYPSLW GFGTTKTFKI PIEHLDFKYI EKCSDVKHLE KILCVLRSGE EGYYPELTEF
CEKHLQALAP ESRALRKDKP AATAASFTAE EWEKIDGDIK SWVSEIKKEE DKMHFHETET
FPAMKDNLPP VRGSNSCLHV GKEKYSKRPT KKKTPRDYAE WDKFDVEKEC LKIDEDYKEK
TVIDKSHLSK IETRIDTAGL TEKEKDFLAT REKEKGNEAF NSGDYEEAVM YYTRSISALP
TVVAYNNRAQ AEIKLQNWNS AFQDCEKVLE LEPGNVKALL RRATTYKHQN KLREATEDLS
KVLDVEPDND LAKKTLSEVE RDLKNSEAAS ETQTKGKRMV IQEIENSEDE EGKSGRKHED
GGGDKKPAEP AGAARAAQPC VMGNIQKKLT GKAEGGKRPA RGAPQRGQTP EAGADKRSPR
RASAAAAAGG GATGHPGGGQ GAENPAGLKS QGNELFRSGQ FAEAAGKYSA AIALLEPAGS
EIADDLSILY SNRAACYLKE GNCSGCIQDC NRALELHPFS MKPLLRRAMA YETLEQYGKA
YVDYKTVLQI DCGLQLANDS VNRLSRILME LDGPNWREKL SPIPAVPASV PLQAWHPAKE
MISKQAGDSS SHRQQGITDE KTFKALKEEG NQCVNDKNYK DALSKYSECL KINNKECAIY
TNRALCYLKL CQFEEAKQDC DQALQLADGN VKAFYRRALA HKGLKNYQKS LIDLNKVILL
DPSIIEAKME LEEVTRLLNL KDKTAPFNKE KERRKIEIQE VNEGKEEPGR PAGEVSMGCL
ASEKGGKSSR SPEDPEKLPI AKPNNAYEFG QIINALSTRK DKEACAHLLA ITAPKDLPMF
LSNKLEGDTF LLLIQSLKNN LIEKDPSLVY QHLLYLSKAE RFKMMLTLIS KGQKELIEQL
FEDLSDTPNN HFTLEDIQAL KRQYEL*
mutated AA sequence MTTKDYPSLW GFGTTKTFKI PIEHLDFKYI EKCSDVKHLE KILCVLRSGE EGYYPELTEF
CEKHLQALAP ESRALRKDKP AATAASFTAE EWEKIDGDIK SWVSEIKKEE DKMHFHETET
FPAMKDNLPP VRGSNSCLHV GKEKYSKRPT KKKTPRDYAE WDKFDVEKEC LKIDEDYKEK
TVIDKSHLSK IETRIDTAGL TEKEKDFLAT REKEKGNEAF NSGDYEEAVM YYTRSISALP
TVVAYNNRAQ AEIKLQNWNS AFQDCEKVLE LEPGNVKALL RRATTYKHQN KLREATEDLS
KVLDVEPDND LAKKTLSEVE RDLKNSEAAS ETQTKGKRMV IQEIENSEDE EGKSGRKHED
GGGDKKPAEP AGAARAAQPC VMGNIQKKLT GKAEGGKRPA RGAPQRGQTP EAGADKRSPR
RASAAAAAGG GATGHPGGGQ GAENPAGLKS QGNELFRSGQ FAEAAGKYSA AIALLEPAGS
EIADDLSILY SNRAACYLKE GNCSGCIQDC NRALELHPFS MKPLLRRAMA YETLEQYGKA
YVDYKTVLQI DCGLQLANDS VNRLSRILME LDGPNWREKL SPIPAVPASV PLQAWHPAKE
MISKQAGDSS SHRQQGITDE KTFKALKEEG NQCVNDKNYK DALSKYSECL KINNKECAIY
TNRALCYLKL CQFEEAKQDC DQALQLADGN VKAFYRRALA HKGLKNYQKS LIDLNKVILL
DPSIIEAKME LEEVTRLLNL KDKTAPFNKE KERRKIEIQE VNEGKEEPGR PAGEVSTGCL
ASEKGGKSSR SPEDPEKLPI AKPNNAYEFG QIINALSTRK DKEACAHLLA ITAPKDLPMF
LSNKLEGDTF LLLIQSLKNN LIEKDPSLVY QHLLYLSKAE RFKMMLTLIS KGQKELIEQL
FEDLSDTPNN HFTLEDIQAL KRQYEL*
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