Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27116 | 81571;81572;81573 | chr2:178564786;178564785;178564784 | chr2:179429513;179429512;179429511 |
| N2AB | 25475 | 76648;76649;76650 | chr2:178564786;178564785;178564784 | chr2:179429513;179429512;179429511 |
| N2A | 24548 | 73867;73868;73869 | chr2:178564786;178564785;178564784 | chr2:179429513;179429512;179429511 |
| N2B | 18051 | 54376;54377;54378 | chr2:178564786;178564785;178564784 | chr2:179429513;179429512;179429511 |
| Novex-1 | 18176 | 54751;54752;54753 | chr2:178564786;178564785;178564784 | chr2:179429513;179429512;179429511 |
| Novex-2 | 18243 | 54952;54953;54954 | chr2:178564786;178564785;178564784 | chr2:179429513;179429512;179429511 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs780359890  |
-0.863 | 0.011 | N | 0.307 | 0.2 | 0.17948927462 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.74E-05 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs780359890 |
-0.863 | 0.011 | N | 0.307 | 0.2 | 0.17948927462 | gnomAD-4.0.0 | 1.5951E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78784E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1234317183 |
-0.441 | 0.892 | N | 0.465 | 0.336 | 0.284150004643 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs1234317183 |
-0.441 | 0.892 | N | 0.465 | 0.336 | 0.284150004643 | 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 |
| S/N | rs1234317183 |
-0.441 | 0.892 | N | 0.465 | 0.336 | 0.284150004643 | gnomAD-4.0.0 | 3.72202E-06 | None | None | None | None | N | None | 0 | 1.67386E-05 | None | 0 | 0 | None | 0 | 0 | 3.39258E-06 | 0 | 1.60333E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1751 | likely_benign | 0.179 | benign | -0.433 | Destabilizing | 0.693 | D | 0.417 | neutral | None | None | None | None | N |
| S/C | 0.2276 | likely_benign | 0.2413 | benign | -0.352 | Destabilizing | 0.999 | D | 0.581 | neutral | N | 0.521010742 | None | None | N |
| S/D | 0.91 | likely_pathogenic | 0.8967 | pathogenic | 0.106 | Stabilizing | 0.916 | D | 0.446 | neutral | None | None | None | None | N |
| S/E | 0.9513 | likely_pathogenic | 0.9492 | pathogenic | 0.023 | Stabilizing | 0.957 | D | 0.443 | neutral | None | None | None | None | N |
| S/F | 0.8437 | likely_pathogenic | 0.8558 | pathogenic | -0.936 | Destabilizing | 0.996 | D | 0.591 | neutral | None | None | None | None | N |
| S/G | 0.1212 | likely_benign | 0.131 | benign | -0.568 | Destabilizing | 0.011 | N | 0.307 | neutral | N | 0.470137336 | None | None | N |
| S/H | 0.8087 | likely_pathogenic | 0.8067 | pathogenic | -1.047 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| S/I | 0.8211 | likely_pathogenic | 0.8392 | pathogenic | -0.205 | Destabilizing | 0.994 | D | 0.555 | neutral | N | 0.514173887 | None | None | N |
| S/K | 0.9694 | likely_pathogenic | 0.9677 | pathogenic | -0.623 | Destabilizing | 0.916 | D | 0.473 | neutral | None | None | None | None | N |
| S/L | 0.4068 | ambiguous | 0.4324 | ambiguous | -0.205 | Destabilizing | 0.987 | D | 0.517 | neutral | None | None | None | None | N |
| S/M | 0.5894 | likely_pathogenic | 0.6061 | pathogenic | 0.028 | Stabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| S/N | 0.4155 | ambiguous | 0.421 | ambiguous | -0.389 | Destabilizing | 0.892 | D | 0.465 | neutral | N | 0.480683947 | None | None | N |
| S/P | 0.9802 | likely_pathogenic | 0.9805 | pathogenic | -0.251 | Destabilizing | 0.996 | D | 0.533 | neutral | None | None | None | None | N |
| S/Q | 0.8829 | likely_pathogenic | 0.8868 | pathogenic | -0.613 | Destabilizing | 0.996 | D | 0.511 | neutral | None | None | None | None | N |
| S/R | 0.9494 | likely_pathogenic | 0.9486 | pathogenic | -0.403 | Destabilizing | 0.983 | D | 0.525 | neutral | N | 0.489775755 | None | None | N |
| S/T | 0.2101 | likely_benign | 0.2101 | benign | -0.486 | Destabilizing | 0.944 | D | 0.435 | neutral | D | 0.522596542 | None | None | N |
| S/V | 0.7225 | likely_pathogenic | 0.746 | pathogenic | -0.251 | Destabilizing | 0.987 | D | 0.553 | neutral | None | None | None | None | N |
| S/W | 0.9152 | likely_pathogenic | 0.9166 | pathogenic | -0.94 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| S/Y | 0.7527 | likely_pathogenic | 0.7645 | pathogenic | -0.679 | Destabilizing | 0.996 | D | 0.597 | 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.