Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22313 | 67162;67163;67164 | chr2:178580442;178580441;178580440 | chr2:179445169;179445168;179445167 |
| N2AB | 20672 | 62239;62240;62241 | chr2:178580442;178580441;178580440 | chr2:179445169;179445168;179445167 |
| N2A | 19745 | 59458;59459;59460 | chr2:178580442;178580441;178580440 | chr2:179445169;179445168;179445167 |
| N2B | 13248 | 39967;39968;39969 | chr2:178580442;178580441;178580440 | chr2:179445169;179445168;179445167 |
| Novex-1 | 13373 | 40342;40343;40344 | chr2:178580442;178580441;178580440 | chr2:179445169;179445168;179445167 |
| Novex-2 | 13440 | 40543;40544;40545 | chr2:178580442;178580441;178580440 | chr2:179445169;179445168;179445167 |
| 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 | rs761874347  |
-0.684 | 0.948 | D | 0.397 | 0.255 | 0.307648195649 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 2.67E-05 | 0 |
| T/A | rs761874347 |
-0.684 | 0.948 | D | 0.397 | 0.255 | 0.307648195649 | 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 |
| T/A | rs761874347 |
-0.684 | 0.948 | D | 0.397 | 0.255 | 0.307648195649 | gnomAD-4.0.0 | 1.02558E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19734E-05 | 2.68097E-05 | 2.84706E-05 |
| T/P | rs761874347 |
None | 0.998 | D | 0.575 | 0.523 | 0.447410926215 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs761874347 |
None | 0.998 | D | 0.575 | 0.523 | 0.447410926215 | gnomAD-4.0.0 | 6.57436E-06 | None | None | None | None | N | None | 2.41185E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs2047437261 |
None | 0.775 | N | 0.236 | 0.156 | 0.227934060464 | gnomAD-4.0.0 | 1.59248E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86036E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.271 | likely_benign | 0.2829 | benign | -0.682 | Destabilizing | 0.948 | D | 0.397 | neutral | D | 0.536310493 | None | None | N |
| T/C | 0.7193 | likely_pathogenic | 0.7292 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.593 | neutral | None | None | None | None | N |
| T/D | 0.6665 | likely_pathogenic | 0.6706 | pathogenic | 0.494 | Stabilizing | 0.998 | D | 0.497 | neutral | None | None | None | None | N |
| T/E | 0.731 | likely_pathogenic | 0.7276 | pathogenic | 0.449 | Stabilizing | 0.998 | D | 0.503 | neutral | None | None | None | None | N |
| T/F | 0.8489 | likely_pathogenic | 0.8577 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| T/G | 0.3657 | ambiguous | 0.3547 | ambiguous | -0.848 | Destabilizing | 0.992 | D | 0.489 | neutral | None | None | None | None | N |
| T/H | 0.6699 | likely_pathogenic | 0.6664 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| T/I | 0.8472 | likely_pathogenic | 0.8564 | pathogenic | -0.354 | Destabilizing | 0.998 | D | 0.577 | neutral | N | 0.499179137 | None | None | N |
| T/K | 0.6449 | likely_pathogenic | 0.6461 | pathogenic | -0.329 | Destabilizing | 0.998 | D | 0.498 | neutral | None | None | None | None | N |
| T/L | 0.488 | ambiguous | 0.4876 | ambiguous | -0.354 | Destabilizing | 0.996 | D | 0.46 | neutral | None | None | None | None | N |
| T/M | 0.4098 | ambiguous | 0.4054 | ambiguous | -0.118 | Destabilizing | 1.0 | D | 0.586 | neutral | None | None | None | None | N |
| T/N | 0.2396 | likely_benign | 0.2383 | benign | -0.172 | Destabilizing | 0.997 | D | 0.46 | neutral | N | 0.496897731 | None | None | N |
| T/P | 0.7806 | likely_pathogenic | 0.8026 | pathogenic | -0.434 | Destabilizing | 0.998 | D | 0.575 | neutral | D | 0.522056332 | None | None | N |
| T/Q | 0.6106 | likely_pathogenic | 0.6029 | pathogenic | -0.341 | Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| T/R | 0.5798 | likely_pathogenic | 0.5769 | pathogenic | -0.11 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| T/S | 0.1346 | likely_benign | 0.1324 | benign | -0.497 | Destabilizing | 0.775 | D | 0.236 | neutral | N | 0.476723472 | None | None | N |
| T/V | 0.6393 | likely_pathogenic | 0.6515 | pathogenic | -0.434 | Destabilizing | 0.996 | D | 0.407 | neutral | None | None | None | None | N |
| T/W | 0.9459 | likely_pathogenic | 0.948 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| T/Y | 0.8286 | likely_pathogenic | 0.8309 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.659 | 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.