Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27125 | 81598;81599;81600 | chr2:178564759;178564758;178564757 | chr2:179429486;179429485;179429484 |
| N2AB | 25484 | 76675;76676;76677 | chr2:178564759;178564758;178564757 | chr2:179429486;179429485;179429484 |
| N2A | 24557 | 73894;73895;73896 | chr2:178564759;178564758;178564757 | chr2:179429486;179429485;179429484 |
| N2B | 18060 | 54403;54404;54405 | chr2:178564759;178564758;178564757 | chr2:179429486;179429485;179429484 |
| Novex-1 | 18185 | 54778;54779;54780 | chr2:178564759;178564758;178564757 | chr2:179429486;179429485;179429484 |
| Novex-2 | 18252 | 54979;54980;54981 | chr2:178564759;178564758;178564757 | chr2:179429486;179429485;179429484 |
| 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/A | rs1362825687  |
0.027 | None | N | 0.09 | 0.075 | 0.1749357433 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.04E-06 | 0 |
| T/A | rs1362825687 |
0.027 | None | N | 0.09 | 0.075 | 0.1749357433 | gnomAD-4.0.0 | 6.84869E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6587E-05 |
| T/I | rs1407261959 |
None | None | N | 0.167 | 0.074 | 0.136095386433 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1407261959 |
None | None | N | 0.167 | 0.074 | 0.136095386433 | gnomAD-4.0.0 | 6.57523E-06 | None | None | None | None | I | None | 2.41453E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs1362825687 |
None | 0.484 | N | 0.358 | 0.156 | 0.263140351381 | gnomAD-4.0.0 | 2.73947E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70002E-06 | 0 | 1.6587E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0803 | likely_benign | 0.0783 | benign | -0.209 | Destabilizing | None | N | 0.09 | neutral | N | 0.489620119 | None | None | I |
| T/C | 0.2517 | likely_benign | 0.2554 | benign | -0.254 | Destabilizing | 0.555 | D | 0.265 | neutral | None | None | None | None | I |
| T/D | 0.4522 | ambiguous | 0.4199 | ambiguous | 0.022 | Stabilizing | 0.149 | N | 0.357 | neutral | None | None | None | None | I |
| T/E | 0.368 | ambiguous | 0.3377 | benign | -0.059 | Destabilizing | 0.149 | N | 0.373 | neutral | None | None | None | None | I |
| T/F | 0.1474 | likely_benign | 0.1495 | benign | -0.742 | Destabilizing | 0.38 | N | 0.373 | neutral | None | None | None | None | I |
| T/G | 0.1785 | likely_benign | 0.1846 | benign | -0.317 | Destabilizing | 0.081 | N | 0.301 | neutral | None | None | None | None | I |
| T/H | 0.217 | likely_benign | 0.2066 | benign | -0.494 | Destabilizing | 0.935 | D | 0.289 | neutral | None | None | None | None | I |
| T/I | 0.0932 | likely_benign | 0.0843 | benign | -0.046 | Destabilizing | None | N | 0.167 | neutral | N | 0.477269684 | None | None | I |
| T/K | 0.2547 | likely_benign | 0.2311 | benign | -0.346 | Destabilizing | 0.149 | N | 0.375 | neutral | None | None | None | None | I |
| T/L | 0.0694 | likely_benign | 0.0644 | benign | -0.046 | Destabilizing | None | N | 0.113 | neutral | None | None | None | None | I |
| T/M | 0.0651 | likely_benign | 0.0644 | benign | -0.04 | Destabilizing | 0.38 | N | 0.28 | neutral | None | None | None | None | I |
| T/N | 0.0949 | likely_benign | 0.0932 | benign | -0.103 | Destabilizing | 0.117 | N | 0.301 | neutral | N | 0.481155352 | None | None | I |
| T/P | 0.3388 | likely_benign | 0.3072 | benign | -0.073 | Destabilizing | 0.484 | N | 0.358 | neutral | N | 0.46810942 | None | None | I |
| T/Q | 0.2113 | likely_benign | 0.1988 | benign | -0.321 | Destabilizing | 0.555 | D | 0.319 | neutral | None | None | None | None | I |
| T/R | 0.2457 | likely_benign | 0.2218 | benign | -0.02 | Destabilizing | 0.38 | N | 0.355 | neutral | None | None | None | None | I |
| T/S | 0.0929 | likely_benign | 0.0922 | benign | -0.271 | Destabilizing | 0.002 | N | 0.122 | neutral | N | 0.461950728 | None | None | I |
| T/V | 0.0816 | likely_benign | 0.0776 | benign | -0.073 | Destabilizing | 0.012 | N | 0.191 | neutral | None | None | None | None | I |
| T/W | 0.4785 | ambiguous | 0.4882 | ambiguous | -0.803 | Destabilizing | 0.935 | D | 0.32 | neutral | None | None | None | None | I |
| T/Y | 0.1686 | likely_benign | 0.1812 | benign | -0.503 | Destabilizing | 0.555 | D | 0.342 | neutral | None | None | None | None | I |
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.