Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999991 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000389908
Genbank transcript ID N/A
UniProt peptide Q9H714
alteration type single base exchange
alteration region CDS
DNA changes c.454G>A
cDNA.1037G>A
g.66169G>A
AA changes G152R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 152
frameshift no
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      152YSHRVSLPTSPGILATSPYPETDS
mutated  not conserved    152YSHRVSLPTSPRILATSPYPETD
Ptroglodytes  not conserved  ENSPTRG00000005855  152YSHRVSLPTSPRILATSPYPETD
Mmulatta  not conserved  ENSMMUG00000009862  85TSPRILVTSPYPETD
Fcatus  not conserved  ENSFCAG00000010241  147KSPQTSVFTSS--KAASSCPEAD
Mmusculus  not conserved  ENSMUSG00000034959  170HLQQESLLKNPKTVATSPSPKEG
Ggallus  no alignment  ENSGALG00000016988  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088402  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1989 / 1989
position (AA) of stopcodon in wt / mu AA sequence 663 / 663
position of stopcodon in wt / mu cDNA 2572 / 2572
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 584 / 584
chromosome 13
strand -1
last intron/exon boundary 2460
theoretical NMD boundary in CDS 1826
length of CDS 1989
coding sequence (CDS) position 454
cDNA position
(for ins/del: last normal base / first normal base)		 1037
gDNA position
(for ins/del: last normal base / first normal base)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered cDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
wildtype AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PGILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSALKEFE QVPGHLTDEL HLFSLEDLVR IKKGLLAPLL KDILKASLAH VAGCELCQGK
GFICEFCQNT TVIFPFQTAT CRRCSACRAC FHKQCFQSSE CPRCARITAR RKLLESVASA
AT*
mutated AA sequence MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK AVWINPQDVQ
QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA ETTLSEDTTD SVGSASPHGS
SEKSSSFSLS STEVHMVRPG YSHRVSLPTS PRILATSPYP ETDSAFFEPS HLTSAADEGA
VQVSRRTISS NSFSPEVFVL PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE
VSGLLGSDQP DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF QKCWILSVVN
SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI RGTEDWAPPR FQIIFNIHPP
LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR YCEYLGKYFC DCCHSYAESC IPARILMMWD
FKKYYVSNFS KQLLDSIWHQ PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR
FANSALKEFE QVPGHLTDEL HLFSLEDLVR IKKGLLAPLL KDILKASLAH VAGCELCQGK
GFICEFCQNT TVIFPFQTAT CRRCSACRAC FHKQCFQSSE CPRCARITAR RKLLESVASA
AT*
speed 0.60 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