Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15778 | 47557;47558;47559 | chr2:178618019;178618018;178618017 | chr2:179482746;179482745;179482744 |
| N2AB | 14137 | 42634;42635;42636 | chr2:178618019;178618018;178618017 | chr2:179482746;179482745;179482744 |
| N2A | 13210 | 39853;39854;39855 | chr2:178618019;178618018;178618017 | chr2:179482746;179482745;179482744 |
| N2B | 6713 | 20362;20363;20364 | chr2:178618019;178618018;178618017 | chr2:179482746;179482745;179482744 |
| Novex-1 | 6838 | 20737;20738;20739 | chr2:178618019;178618018;178618017 | chr2:179482746;179482745;179482744 |
| Novex-2 | 6905 | 20938;20939;20940 | chr2:178618019;178618018;178618017 | chr2:179482746;179482745;179482744 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs778449192  |
-0.09 | 0.984 | D | 0.532 | 0.378 | 0.384419519794 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| T/I | rs778449192 |
-0.09 | 0.984 | D | 0.532 | 0.378 | 0.384419519794 | gnomAD-4.0.0 | 3.1878E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72534E-06 | 0 | 0 |
| T/S | rs1292014251 |
-1.241 | 0.123 | N | 0.232 | 0.132 | 0.130388298395 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1292014251 |
-1.241 | 0.123 | N | 0.232 | 0.132 | 0.130388298395 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs1292014251 |
-1.241 | 0.123 | N | 0.232 | 0.132 | 0.130388298395 | gnomAD-4.0.0 | 3.84958E-06 | None | None | None | None | N | None | 5.08182E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0849 | likely_benign | 0.0871 | benign | -1.114 | Destabilizing | 0.64 | D | 0.397 | neutral | N | 0.479604986 | None | None | N |
| T/C | 0.3438 | ambiguous | 0.3177 | benign | -0.74 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| T/D | 0.3529 | ambiguous | 0.3705 | ambiguous | -0.691 | Destabilizing | 0.851 | D | 0.457 | neutral | None | None | None | None | N |
| T/E | 0.2464 | likely_benign | 0.2619 | benign | -0.618 | Destabilizing | 0.919 | D | 0.447 | neutral | None | None | None | None | N |
| T/F | 0.212 | likely_benign | 0.2156 | benign | -1.098 | Destabilizing | 0.996 | D | 0.684 | prob.neutral | None | None | None | None | N |
| T/G | 0.2111 | likely_benign | 0.2072 | benign | -1.43 | Destabilizing | 0.702 | D | 0.523 | neutral | None | None | None | None | N |
| T/H | 0.1893 | likely_benign | 0.1963 | benign | -1.696 | Destabilizing | 0.988 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/I | 0.1531 | likely_benign | 0.1591 | benign | -0.336 | Destabilizing | 0.984 | D | 0.532 | neutral | D | 0.533542512 | None | None | N |
| T/K | 0.1472 | likely_benign | 0.1536 | benign | -0.666 | Destabilizing | 0.896 | D | 0.436 | neutral | N | 0.474157082 | None | None | N |
| T/L | 0.1002 | likely_benign | 0.1009 | benign | -0.336 | Destabilizing | 0.959 | D | 0.451 | neutral | None | None | None | None | N |
| T/M | 0.1017 | likely_benign | 0.1002 | benign | -0.092 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| T/N | 0.119 | likely_benign | 0.1237 | benign | -0.88 | Destabilizing | 0.034 | N | 0.363 | neutral | None | None | None | None | N |
| T/P | 0.7561 | likely_pathogenic | 0.7572 | pathogenic | -0.564 | Destabilizing | 0.984 | D | 0.529 | neutral | D | 0.638092081 | None | None | N |
| T/Q | 0.158 | likely_benign | 0.165 | benign | -0.954 | Destabilizing | 0.988 | D | 0.556 | neutral | None | None | None | None | N |
| T/R | 0.125 | likely_benign | 0.1319 | benign | -0.576 | Destabilizing | 0.968 | D | 0.529 | neutral | N | 0.481588169 | None | None | N |
| T/S | 0.0887 | likely_benign | 0.0885 | benign | -1.176 | Destabilizing | 0.123 | N | 0.232 | neutral | N | 0.390924317 | None | None | N |
| T/V | 0.1336 | likely_benign | 0.1341 | benign | -0.564 | Destabilizing | 0.959 | D | 0.391 | neutral | None | None | None | None | N |
| T/W | 0.5748 | likely_pathogenic | 0.5898 | pathogenic | -1.056 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/Y | 0.257 | likely_benign | 0.2649 | benign | -0.774 | Destabilizing | 0.996 | D | 0.694 | prob.neutral | 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.