Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999999852 (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
- splice site changes
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr8:10383138G>AN/A
show variant in all transcripts IGV
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HGNC symbol | PRSS55 |
Ensembl transcript ID | ENST00000328655 |
Genbank transcript ID | NM_198464 |
UniProt peptide | Q6UWB4 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.43G>A cDNA.83G>A g.83G>A |
AA changes | G15R Score: 125 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 15 |
frameshift | no |
known variant | Reference ID: rs35102108
database | homozygous (A/A) | heterozygous | allele carriers |
1000G | 107 | 714 | 821 |
ExAC | 2803 | 19196 | 21999 |
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regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -0.178 | 0 | | -0.212 | 0 | (flanking) | -0.872 | 0 | explain score(s) and/or inspect your position(s) in in UCSC Genome Browser |
splice sites | effect | gDNA position | score | wt detection sequence | exon-intron border | Acc marginally increased | 83 | wt: 0.8782 / mu: 0.9035 (marginal change - not scored) | wt: TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG mu: TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG | acgg|GAAC | Acc marginally increased | 74 | wt: 0.5513 / mu: 0.6069 (marginal change - not scored) | wt: CAGTGTTGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCTC mu: CAGTGTTGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCTC | tccc|TGGT | Acc marginally increased | 73 | wt: 0.5919 / mu: 0.6452 (marginal change - not scored) | wt: TCAGTGTTGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCT mu: TCAGTGTTGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCT | gtcc|CTGG | Acc marginally increased | 80 | wt: 0.2625 / mu: 0.2768 (marginal change - not scored) | wt: TGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCA mu: TGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCA | gtca|CGGG | Donor marginally increased | 81 | wt: 0.9855 / mu: 0.9871 (marginal change - not scored) | wt: GGTCACGGGAACTCA mu: GGTCACGAGAACTCA | TCAC|ggga | Donor marginally increased | 76 | wt: 0.9721 / mu: 0.9769 (marginal change - not scored) | wt: TCCCTGGTCACGGGA mu: TCCCTGGTCACGAGA | CCTG|gtca | Donor gained | 78 | 0.43 | mu: CCTGGTCACGAGAAC | TGGT|cacg |
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distance from splice site | 83 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 15 | F | S | V | L | L | L | L | S | L | V | T | G | T | Q | L | G | P | R | T | P | L | P | E | A |
mutated | not conserved | | 15 | F | S | V | L | L | L | L | S | L | V | T | R | T | Q | L | G | P | R | T | P | L | P | E |
Ptroglodytes | all identical | ENSPTRG00000019975 | 15 | F | S | V | L | L | L | L | S | L | V | T | G | T | Q | L | G | P | R | T | P | L | P | E |
Mmulatta | not conserved | ENSMMUG00000012043 | 15 | F | S | V | L | L | L | L | S | L | V | T | E | A | Q | L | S | P | R | T | P | L | P | E |
Fcatus | no homologue | | | |
Mmusculus | no alignment | ENSMUSG00000034623 | n/a | |
Ggallus | no homologue | | | |
Trubripes | no homologue | | | |
Drerio | no homologue | | | |
Dmelanogaster | no alignment | FBgn0052808 | n/a | |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 1 | 18 | SIGNAL | Potential. | lost | 19 | 326 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 68 | 300 | DOMAIN | Peptidase S1. | might get lost (downstream of altered splice site) | 93 | 93 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 108 | 108 | ACT_SITE | Charge relay system (By similarity). | might get lost (downstream of altered splice site) | 109 | 109 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 156 | 156 | ACT_SITE | Charge relay system (By similarity). | might get lost (downstream of altered splice site) | 189 | 189 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 222 | 222 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 235 | 235 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 240 | 240 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 246 | 246 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 250 | 250 | ACT_SITE | Charge relay system (By similarity). | might get lost (downstream of altered splice site) | 256 | 256 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 276 | 276 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 327 | 347 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 348 | 352 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) |
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length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 1059 / 1059 |
position (AA) of stopcodon in wt / mu AA sequence | 353 / 353 |
position of stopcodon in wt / mu cDNA | 1099 / 1099 |
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 | 41 / 41 |
chromosome | 8 |
strand | 1 |
last intron/exon boundary | 782 |
theoretical NMD boundary in CDS | 691 |
length of CDS | 1059 |
coding sequence (CDS) position | 43 |
cDNA position (for ins/del: last normal base / first normal base) | 83 |
gDNA position (for ins/del: last normal base / first normal base) | 83 |
chromosomal position (for ins/del: last normal base / first normal base) | 10383138 |
original gDNA sequence snippet | TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG |
altered gDNA sequence snippet | TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG |
original cDNA sequence snippet | TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG |
altered cDNA sequence snippet | TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG |
wildtype AA sequence | MLLFSVLLLL SLVTGTQLGP RTPLPEAGVA ILGRARGAHR PQPPHPPSPV SECGDRSIFE GRTRYSRITG GMEAEVGEFP WQVSIQARSE PFCGGSILNK WWILTAAHCL YSEELFPEEL SVVLGTNDLT SPSMEIKEVA SIILHKDFKR ANMDNDIALL LLASPIKLDD LKVPICLPTQ PGPATWRECW VAGWGQTNAA DKNSVKTDLM KAPMVIMDWE ECSKMFPKLT KNMLCAGYKN ESYDACKGDS GGPLVCTPEP GEKWYQVGII SWGKSCGEKN TPGIYTSLVN YNLWIEKVTQ LEGRPFNAEK RRTSVKQKPM GSPVSGVPEP GSPRSWLLLC PLSHVLFRAI LY* |
mutated AA sequence | MLLFSVLLLL SLVTRTQLGP RTPLPEAGVA ILGRARGAHR PQPPHPPSPV SECGDRSIFE GRTRYSRITG GMEAEVGEFP WQVSIQARSE PFCGGSILNK WWILTAAHCL YSEELFPEEL SVVLGTNDLT SPSMEIKEVA SIILHKDFKR ANMDNDIALL LLASPIKLDD LKVPICLPTQ PGPATWRECW VAGWGQTNAA DKNSVKTDLM KAPMVIMDWE ECSKMFPKLT KNMLCAGYKN ESYDACKGDS GGPLVCTPEP GEKWYQVGII SWGKSCGEKN TPGIYTSLVN YNLWIEKVTQ LEGRPFNAEK RRTSVKQKPM GSPVSGVPEP GSPRSWLLLC PLSHVLFRAI LY* |
speed | 1.06 s |
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