Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999811427462 (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) chr2:231258150C>TN/A show variant in all transcripts   IGV
HGNC symbol SP140L
Ensembl transcript ID ENST00000444636
Genbank transcript ID N/A
UniProt peptide Q9H930
alteration type single base exchange
alteration region CDS
DNA changes c.1129C>T
cDNA.1215C>T
g.66252C>T
AA changes P377S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 377
frameshift no
known variant Reference ID: rs7590429
databasehomozygous (T/T)heterozygousallele carriers
1000G47211431615
ExAC85691562924198
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.350.334
0.6050.34
(flanking)1.0920.338
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 increased66257wt: 0.5452 / mu: 0.5653 (marginal change - not scored)wt: TCTCTACCTAATCCTCCAAGAATATATTACAGGAACAAAAA
mu: TCTCTACCTAATCCTTCAAGAATATATTACAGGAACAAAAA		 aaga|ATAT
Acc marginally increased66255wt: 0.5465 / mu: 0.5489 (marginal change - not scored)wt: GATCTCTACCTAATCCTCCAAGAATATATTACAGGAACAAA
mu: GATCTCTACCTAATCCTTCAAGAATATATTACAGGAACAAA		 ccaa|GAAT
Donor marginally increased66250wt: 0.9412 / mu: 0.9511 (marginal change - not scored)wt: TAATCCTCCAAGAAT
mu: TAATCCTTCAAGAAT		 ATCC|tcca
Donor marginally increased66254wt: 0.3417 / mu: 0.3453 (marginal change - not scored)wt: CCTCCAAGAATATAT
mu: CCTTCAAGAATATAT		 TCCA|agaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      377RLMEEGSLPNPPRIYYRNKKRILK
mutated  not conserved    377RLMEEGSLPNPSRIYYRNKKRIL
Ptroglodytes  all identical  ENSPTRG00000013011  377RLMEEGSLPNPPRIYYRNRKRIL
Mmulatta  all identical  ENSMMUG00000016575  289RLMKEGSLPNPPKIHYRNQKRIL
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000055359  59-----------KRVL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000032669  176TMFQATNL-------------LS
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1317 / 1317
position (AA) of stopcodon in wt / mu AA sequence 439 / 439
position of stopcodon in wt / mu cDNA 1403 / 1403
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 2
strand 1
last intron/exon boundary 1284
theoretical NMD boundary in CDS 1147
length of CDS 1317
coding sequence (CDS) position 1129
cDNA position
(for ins/del: last normal base / first normal base)		 1215
gDNA position
(for ins/del: last normal base / first normal base)		 66252
chromosomal position
(for ins/del: last normal base / first normal base)		 231258150
original gDNA sequence snippet AAGGATCTCTACCTAATCCTCCAAGAATATATTACAGGAAC
altered gDNA sequence snippet AAGGATCTCTACCTAATCCTTCAAGAATATATTACAGGAAC
original cDNA sequence snippet AAGGATCTCTACCTAATCCTCCAAGAATATATTACAGGAAC
altered cDNA sequence snippet AAGGATCTCTACCTAATCCTTCAAGAATATATTACAGGAAC
wildtype AA sequence MAGGGSDLST RGLNGGVSQV ANEMNHLPAH SQSLQRLFTE DQDVDEGLVY DTVFKHFKRH
KLEISNAIKK TFPFLEGLRD RELITNKMFE DSEDSCRNLV PVQRVVYNVL SELEKTFNLS
VLEALFSEVN MQEYPDLIHI YKSFKNAIQD KLSFQESDRK EREERPDIKL SLKQGEVPES
PEARKESDQA CGKMDTVDIA NNSTLGKPKR KRRKKKGHGW SRMGTRTQKN NQQNDNSKAD
GQLVSSEKKA NMNLKDLSKI RGRKRGKPGT HFTQSDRAPQ KRVRSRASRK HKDETVDFQA
PLLPVTCGGV KGILHKEKLE QGTLAKCIQT EDGKWFTPME FEIKGGYARS KNWRLSVRCG
GWPLRRLMEE GSLPNPPRIY YRNKKRILKS QNNSSVDPCM RNLDECEVCR DGGELFCCDT
CSRVFHEDCH IPPVESEK*
mutated AA sequence MAGGGSDLST RGLNGGVSQV ANEMNHLPAH SQSLQRLFTE DQDVDEGLVY DTVFKHFKRH
KLEISNAIKK TFPFLEGLRD RELITNKMFE DSEDSCRNLV PVQRVVYNVL SELEKTFNLS
VLEALFSEVN MQEYPDLIHI YKSFKNAIQD KLSFQESDRK EREERPDIKL SLKQGEVPES
PEARKESDQA CGKMDTVDIA NNSTLGKPKR KRRKKKGHGW SRMGTRTQKN NQQNDNSKAD
GQLVSSEKKA NMNLKDLSKI RGRKRGKPGT HFTQSDRAPQ KRVRSRASRK HKDETVDFQA
PLLPVTCGGV KGILHKEKLE QGTLAKCIQT EDGKWFTPME FEIKGGYARS KNWRLSVRCG
GWPLRRLMEE GSLPNPSRIY YRNKKRILKS QNNSSVDPCM RNLDECEVCR DGGELFCCDT
CSRVFHEDCH IPPVESEK*
speed 0.56 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