Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8792 | 26599;26600;26601 | chr2:178714400;178714399;178714398 | chr2:179579127;179579126;179579125 |
| N2AB | 8475 | 25648;25649;25650 | chr2:178714400;178714399;178714398 | chr2:179579127;179579126;179579125 |
| N2A | 7548 | 22867;22868;22869 | chr2:178714400;178714399;178714398 | chr2:179579127;179579126;179579125 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs761198294  |
-2.074 | 0.999 | N | 0.798 | 0.24 | 0.323342291347 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/E | rs761198294 |
-2.074 | 0.999 | N | 0.798 | 0.24 | 0.323342291347 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/E | rs761198294 |
-2.074 | 0.999 | N | 0.798 | 0.24 | 0.323342291347 | gnomAD-4.0.0 | 4.33802E-06 | None | None | None | None | N | None | 6.67557E-05 | 1.66706E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60108E-05 |
| A/S | rs764989717 |
-1.387 | 0.848 | N | 0.717 | 0.099 | 0.148003135375 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| A/S | rs764989717 |
-1.387 | 0.848 | N | 0.717 | 0.099 | 0.148003135375 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | rs764989717 |
-1.387 | 0.848 | N | 0.717 | 0.099 | 0.148003135375 | gnomAD-4.0.0 | 2.5623E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78631E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5917 | likely_pathogenic | 0.6531 | pathogenic | -0.886 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | N |
| A/D | 0.9039 | likely_pathogenic | 0.9617 | pathogenic | -1.683 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| A/E | 0.8414 | likely_pathogenic | 0.9269 | pathogenic | -1.442 | Destabilizing | 0.999 | D | 0.798 | deleterious | N | 0.474810327 | None | None | N |
| A/F | 0.5952 | likely_pathogenic | 0.7405 | pathogenic | -0.402 | Destabilizing | 0.994 | D | 0.815 | deleterious | None | None | None | None | N |
| A/G | 0.2406 | likely_benign | 0.3215 | benign | -1.258 | Destabilizing | 0.322 | N | 0.737 | prob.delet. | N | 0.452983089 | None | None | N |
| A/H | 0.8862 | likely_pathogenic | 0.9367 | pathogenic | -1.774 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/I | 0.285 | likely_benign | 0.435 | ambiguous | 0.706 | Stabilizing | 0.969 | D | 0.789 | deleterious | None | None | None | None | N |
| A/K | 0.9103 | likely_pathogenic | 0.9595 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/L | 0.2703 | likely_benign | 0.3984 | ambiguous | 0.706 | Stabilizing | 0.833 | D | 0.764 | deleterious | None | None | None | None | N |
| A/M | 0.3469 | ambiguous | 0.4996 | ambiguous | 0.227 | Stabilizing | 0.994 | D | 0.791 | deleterious | None | None | None | None | N |
| A/N | 0.7776 | likely_pathogenic | 0.8888 | pathogenic | -0.978 | Destabilizing | 0.988 | D | 0.816 | deleterious | None | None | None | None | N |
| A/P | 0.7784 | likely_pathogenic | 0.8959 | pathogenic | 0.272 | Stabilizing | 0.999 | D | 0.798 | deleterious | N | 0.478431178 | None | None | N |
| A/Q | 0.8091 | likely_pathogenic | 0.8891 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/R | 0.8626 | likely_pathogenic | 0.9235 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/S | 0.1724 | likely_benign | 0.2143 | benign | -1.46 | Destabilizing | 0.848 | D | 0.717 | prob.delet. | N | 0.506442506 | None | None | N |
| A/T | 0.1277 | likely_benign | 0.1746 | benign | -1.064 | Destabilizing | 0.236 | N | 0.558 | neutral | N | 0.480922712 | None | None | N |
| A/V | 0.1319 | likely_benign | 0.1914 | benign | 0.272 | Stabilizing | 0.023 | N | 0.476 | neutral | N | 0.481450848 | None | None | N |
| A/W | 0.9394 | likely_pathogenic | 0.9698 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/Y | 0.8163 | likely_pathogenic | 0.8892 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.