| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000274192(MANE Select) | SRD5A1 | Benign | 41|59 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr5:6633595G>A (GRCh38) | |||||||||||||
| Gene symbol | SRD5A1 | |||||||||||||
| Gene constraints | LOEUF: 1.27, LOF (oe): 0.85, misssense (oe): 0.97, synonymous (oe): 1.27 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000274192.7 | |||||||||||||
| Genbank transcript ID | NM_001047 (exact from MANE), NM_001324323 (by similarity), NM_001324322 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | S5A1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.19G>A g.306G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 5 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CGATGGCAACGGCGACGGGGGTGGCGGAGGAGCGCCTGCTG | |||||||||||||
| Altered gDNA sequence snippet | CGATGGCAACGGCGACGGGGATGGCGGAGGAGCGCCTGCTG | |||||||||||||
| Original cDNA sequence snippet | CGATGGCAACGGCGACGGGGGTGGCGGAGGAGCGCCTGCTG | |||||||||||||
| Altered cDNA sequence snippet | CGATGGCAACGGCGACGGGGATGGCGGAGGAGCGCCTGCTG | |||||||||||||
| Wildtype AA sequence | MATATGVAEE RLLAALAYLQ CAVGCAVFAR NRQTNSVYGR HALPSHRLRV PARAAWVVQE LPSLALPLYQ YASESAPRLR SAPNCILLAM FLVHYGHRCL IYPFLMRGGK PMPLLACTMA IMFCTCNGYL QSRYLSHCAV YADDWVTDPR FLIGFGLWLT GMLINIHSDH ILRNLRKPGD TGYKIPRGGL FEYVTAANYF GEIMEWCGYA LASWSVQGAA FAFFTFCFLS GRAKEHHEWY LRKFEEYPKF RKIIIPFLF* | |||||||||||||
| Mutated AA sequence | MATATGMAEE RLLAALAYLQ CAVGCAVFAR NRQTNSVYGR HALPSHRLRV PARAAWVVQE LPSLALPLYQ YASESAPRLR SAPNCILLAM FLVHYGHRCL IYPFLMRGGK PMPLLACTMA IMFCTCNGYL QSRYLSHCAV YADDWVTDPR FLIGFGLWLT GMLINIHSDH ILRNLRKPGD TGYKIPRGGL FEYVTAANYF GEIMEWCGYA LASWSVQGAA FAFFTFCFLS GRAKEHHEWY LRKFEEYPKF RKIIIPFLF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 780 / 780 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 260 / 260 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 917 / 917 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 138 / 138 | |||||||||||||
| Last intron/exon boundary | 850 | |||||||||||||
| Theoretical NMD boundary in CDS | 662 | |||||||||||||
| Length of CDS | 780 | |||||||||||||
| Coding sequence (CDS) position | 19 | |||||||||||||
| cDNA position | 156 | |||||||||||||
| gDNA position | 306 | |||||||||||||
| Chromosomal position | 6633595 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project