Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19 | 280;281;282 | chr2:178804588;178804587;178804586 | chr2:179669315;179669314;179669313 |
| N2AB | 19 | 280;281;282 | chr2:178804588;178804587;178804586 | chr2:179669315;179669314;179669313 |
| N2A | 19 | 280;281;282 | chr2:178804588;178804587;178804586 | chr2:179669315;179669314;179669313 |
| N2B | 19 | 280;281;282 | chr2:178804588;178804587;178804586 | chr2:179669315;179669314;179669313 |
| Novex-1 | 19 | 280;281;282 | chr2:178804588;178804587;178804586 | chr2:179669315;179669314;179669313 |
| Novex-2 | 19 | 280;281;282 | chr2:178804588;178804587;178804586 | chr2:179669315;179669314;179669313 |
| Novex-3 | 19 | 280;281;282 | chr2:178804588;178804587;178804586 | chr2:179669315;179669314;179669313 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs781416228  |
-1.446 | 0.979 | N | 0.446 | 0.361 | 0.560989807984 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.766(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| E/D | rs781416228 |
-1.446 | 0.979 | N | 0.446 | 0.361 | 0.560989807984 | gnomAD-4.0.0 | 2.05234E-06 | None | None | None | -0.766(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69797E-06 | 0 | 0 |
| E/G | rs954288080 |
None | 1.0 | D | 0.639 | 0.522 | 0.621312436561 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.793(TCAP) | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs954288080 |
None | 1.0 | D | 0.639 | 0.522 | 0.621312436561 | gnomAD-4.0.0 | 1.59072E-06 | None | None | None | -0.793(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02243E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3506 | ambiguous | 0.3268 | benign | -0.887 | Destabilizing | 0.997 | D | 0.635 | neutral | N | 0.45477368 | None | -0.64(TCAP) | N |
| E/C | 0.9935 | likely_pathogenic | 0.9932 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | -1.047(TCAP) | N |
| E/D | 0.5888 | likely_pathogenic | 0.5631 | ambiguous | -0.628 | Destabilizing | 0.979 | D | 0.446 | neutral | N | 0.500342548 | None | -0.766(TCAP) | N |
| E/F | 0.9866 | likely_pathogenic | 0.9838 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | -0.656(TCAP) | N |
| E/G | 0.6028 | likely_pathogenic | 0.5663 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.639 | neutral | D | 0.668220935 | None | -0.793(TCAP) | N |
| E/H | 0.9385 | likely_pathogenic | 0.9301 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | 0.449(TCAP) | N |
| E/I | 0.8515 | likely_pathogenic | 0.8411 | pathogenic | -0.149 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | -0.195(TCAP) | N |
| E/K | 0.597 | likely_pathogenic | 0.5605 | ambiguous | -0.008 | Destabilizing | 0.999 | D | 0.609 | neutral | N | 0.476547787 | None | -0.544(TCAP) | N |
| E/L | 0.8611 | likely_pathogenic | 0.8457 | pathogenic | -0.149 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | -0.195(TCAP) | N |
| E/M | 0.8938 | likely_pathogenic | 0.8878 | pathogenic | 0.198 | Stabilizing | 0.999 | D | 0.657 | neutral | None | None | None | 0.53(TCAP) | N |
| E/N | 0.7848 | likely_pathogenic | 0.7647 | pathogenic | -0.526 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | -1.91(TCAP) | N |
| E/P | 0.8591 | likely_pathogenic | 0.8474 | pathogenic | -0.375 | Destabilizing | 0.995 | D | 0.647 | neutral | None | None | None | -0.338(TCAP) | N |
| E/Q | 0.3668 | ambiguous | 0.3624 | ambiguous | -0.452 | Destabilizing | 0.999 | D | 0.621 | neutral | N | 0.459986394 | None | -1.468(TCAP) | N |
| E/R | 0.7442 | likely_pathogenic | 0.7153 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | -0.301(TCAP) | N |
| E/S | 0.5687 | likely_pathogenic | 0.5432 | ambiguous | -0.733 | Destabilizing | 0.998 | D | 0.661 | neutral | None | None | None | -1.808(TCAP) | N |
| E/T | 0.6559 | likely_pathogenic | 0.6353 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | -1.659(TCAP) | N |
| E/V | 0.6435 | likely_pathogenic | 0.6244 | pathogenic | -0.375 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | N | 0.455023539 | None | -0.338(TCAP) | N |
| E/W | 0.9961 | likely_pathogenic | 0.9953 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | -0.797(TCAP) | N |
| E/Y | 0.9718 | likely_pathogenic | 0.9655 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | -0.643(TCAP) | 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.