Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19448 | 58567;58568;58569 | chr2:178594051;178594050;178594049 | chr2:179458778;179458777;179458776 |
| N2AB | 17807 | 53644;53645;53646 | chr2:178594051;178594050;178594049 | chr2:179458778;179458777;179458776 |
| N2A | 16880 | 50863;50864;50865 | chr2:178594051;178594050;178594049 | chr2:179458778;179458777;179458776 |
| N2B | 10383 | 31372;31373;31374 | chr2:178594051;178594050;178594049 | chr2:179458778;179458777;179458776 |
| Novex-1 | 10508 | 31747;31748;31749 | chr2:178594051;178594050;178594049 | chr2:179458778;179458777;179458776 |
| Novex-2 | 10575 | 31948;31949;31950 | chr2:178594051;178594050;178594049 | chr2:179458778;179458777;179458776 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs900082928  |
0.204 | 0.999 | N | 0.639 | 0.344 | 0.235664433957 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs900082928 |
0.204 | 0.999 | N | 0.639 | 0.344 | 0.235664433957 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.31062E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| K/E | rs900082928 |
0.204 | 0.999 | N | 0.639 | 0.344 | 0.235664433957 | gnomAD-4.0.0 | 5.57817E-06 | None | None | None | None | N | None | 0 | 5.00384E-05 | None | 0 | 0 | None | 0 | 0 | 4.23855E-06 | 0 | 1.60143E-05 |
| K/R | rs2050867556 |
None | 0.999 | N | 0.594 | 0.196 | 0.176091768786 | 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 |
| K/R | rs2050867556 |
None | 0.999 | N | 0.594 | 0.196 | 0.176091768786 | gnomAD-4.0.0 | 1.85939E-06 | None | None | None | None | N | None | 0 | 3.33589E-05 | None | 0 | 0 | None | 0 | 0 | 8.47711E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2797 | likely_benign | 0.2561 | benign | -0.116 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| K/C | 0.6152 | likely_pathogenic | 0.6116 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| K/D | 0.3791 | ambiguous | 0.3651 | ambiguous | 0.118 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| K/E | 0.1597 | likely_benign | 0.144 | benign | 0.164 | Stabilizing | 0.999 | D | 0.639 | neutral | N | 0.495804225 | None | None | N |
| K/F | 0.6498 | likely_pathogenic | 0.6606 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/G | 0.3818 | ambiguous | 0.3523 | ambiguous | -0.39 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| K/H | 0.2416 | likely_benign | 0.2468 | benign | -0.661 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/I | 0.3503 | ambiguous | 0.3397 | benign | 0.545 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| K/L | 0.3285 | likely_benign | 0.3191 | benign | 0.545 | Stabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| K/M | 0.2054 | likely_benign | 0.2031 | benign | 0.296 | Stabilizing | 1.0 | D | 0.67 | neutral | N | 0.474178444 | None | None | N |
| K/N | 0.2813 | likely_benign | 0.2725 | benign | 0.026 | Stabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.464939813 | None | None | N |
| K/P | 0.7702 | likely_pathogenic | 0.71 | pathogenic | 0.355 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1223 | likely_benign | 0.1178 | benign | -0.111 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.5097736 | None | None | N |
| K/R | 0.0912 | likely_benign | 0.0872 | benign | -0.209 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.499191247 | None | None | N |
| K/S | 0.3171 | likely_benign | 0.3001 | benign | -0.533 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| K/T | 0.1549 | likely_benign | 0.1444 | benign | -0.314 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.455060231 | None | None | N |
| K/V | 0.3082 | likely_benign | 0.2947 | benign | 0.355 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/W | 0.7083 | likely_pathogenic | 0.6968 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| K/Y | 0.5005 | ambiguous | 0.5166 | ambiguous | 0.287 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | 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.