Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 79 | 460;461;462 | chr2:178802198;178802197;178802196 | chr2:179666925;179666924;179666923 |
| N2AB | 79 | 460;461;462 | chr2:178802198;178802197;178802196 | chr2:179666925;179666924;179666923 |
| N2A | 79 | 460;461;462 | chr2:178802198;178802197;178802196 | chr2:179666925;179666924;179666923 |
| N2B | 79 | 460;461;462 | chr2:178802198;178802197;178802196 | chr2:179666925;179666924;179666923 |
| Novex-1 | 79 | 460;461;462 | chr2:178802198;178802197;178802196 | chr2:179666925;179666924;179666923 |
| Novex-2 | 79 | 460;461;462 | chr2:178802198;178802197;178802196 | chr2:179666925;179666924;179666923 |
| Novex-3 | 79 | 460;461;462 | chr2:178802198;178802197;178802196 | chr2:179666925;179666924;179666923 |
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/F | None | None | 0.999 | N | 0.759 | 0.508 | 0.519946186488 | gnomAD-4.0.0 | 2.73624E-06 | None | None | None | -0.255(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.93722E-04 | 0 | 0 | 0 |
| S/T | rs746487470  |
0.247 | 0.076 | N | 0.479 | 0.182 | 0.0716867268079 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.622(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/T | rs746487470 |
0.247 | 0.076 | N | 0.479 | 0.182 | 0.0716867268079 | gnomAD-4.0.0 | 1.59045E-06 | None | None | None | -0.622(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| S/Y | None | None | 1.0 | N | 0.759 | 0.468 | 0.487772906946 | gnomAD-4.0.0 | 6.8406E-07 | None | None | None | -0.029(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9929E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1387 | likely_benign | 0.134 | benign | -0.887 | Destabilizing | 0.443 | N | 0.54 | neutral | N | 0.443984574 | None | -0.071(TCAP) | N |
| S/C | 0.3496 | ambiguous | 0.3152 | benign | -0.078 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.440121961 | None | -0.441(TCAP) | N |
| S/D | 0.7825 | likely_pathogenic | 0.7781 | pathogenic | -0.933 | Destabilizing | 0.986 | D | 0.583 | neutral | None | None | None | -0.322(TCAP) | N |
| S/E | 0.6712 | likely_pathogenic | 0.689 | pathogenic | -0.667 | Destabilizing | 0.99 | D | 0.578 | neutral | None | None | None | -0.452(TCAP) | N |
| S/F | 0.2569 | likely_benign | 0.2611 | benign | -0.786 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.489875151 | None | -0.255(TCAP) | N |
| S/G | 0.2506 | likely_benign | 0.2363 | benign | -1.304 | Destabilizing | 0.992 | D | 0.565 | neutral | None | None | None | -0.015(TCAP) | N |
| S/H | 0.475 | ambiguous | 0.4816 | ambiguous | -1.344 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | 0.496(TCAP) | N |
| S/I | 0.2086 | likely_benign | 0.2073 | benign | 0.218 | Stabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | -0.3(TCAP) | N |
| S/K | 0.8828 | likely_pathogenic | 0.8841 | pathogenic | 0.786 | Stabilizing | 0.996 | D | 0.577 | neutral | None | None | None | -0.772(TCAP) | N |
| S/L | 0.1666 | likely_benign | 0.1691 | benign | 0.218 | Stabilizing | 0.992 | D | 0.601 | neutral | None | None | None | -0.3(TCAP) | N |
| S/M | 0.3224 | likely_benign | 0.3113 | benign | -0.052 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | -0.046(TCAP) | N |
| S/N | 0.3585 | ambiguous | 0.354 | ambiguous | -0.055 | Destabilizing | 0.89 | D | 0.586 | neutral | None | None | None | -0.713(TCAP) | N |
| S/P | 0.9877 | likely_pathogenic | 0.9833 | pathogenic | -0.12 | Destabilizing | 0.997 | D | 0.673 | neutral | D | 0.55877714 | None | -0.215(TCAP) | N |
| S/Q | 0.6054 | likely_pathogenic | 0.6211 | pathogenic | 0.292 | Stabilizing | 0.999 | D | 0.669 | neutral | None | None | None | -0.678(TCAP) | N |
| S/R | 0.7258 | likely_pathogenic | 0.7401 | pathogenic | 0.143 | Stabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | -0.755(TCAP) | N |
| S/T | 0.1057 | likely_benign | 0.1036 | benign | 0.246 | Stabilizing | 0.076 | N | 0.479 | neutral | N | 0.364170522 | None | -0.622(TCAP) | N |
| S/V | 0.2476 | likely_benign | 0.2471 | benign | -0.12 | Destabilizing | 0.994 | D | 0.644 | neutral | None | None | None | -0.215(TCAP) | N |
| S/W | 0.4591 | ambiguous | 0.4647 | ambiguous | -0.948 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | -0.271(TCAP) | N |
| S/Y | 0.2652 | likely_benign | 0.2654 | benign | -0.476 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.436990268 | None | -0.029(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.