Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2416 | 7471;7472;7473 | chr2:178773922;178773921;178773920 | chr2:179638649;179638648;179638647 |
| N2AB | 2416 | 7471;7472;7473 | chr2:178773922;178773921;178773920 | chr2:179638649;179638648;179638647 |
| N2A | 2416 | 7471;7472;7473 | chr2:178773922;178773921;178773920 | chr2:179638649;179638648;179638647 |
| N2B | 2370 | 7333;7334;7335 | chr2:178773922;178773921;178773920 | chr2:179638649;179638648;179638647 |
| Novex-1 | 2370 | 7333;7334;7335 | chr2:178773922;178773921;178773920 | chr2:179638649;179638648;179638647 |
| Novex-2 | 2370 | 7333;7334;7335 | chr2:178773922;178773921;178773920 | chr2:179638649;179638648;179638647 |
| Novex-3 | 2416 | 7471;7472;7473 | chr2:178773922;178773921;178773920 | chr2:179638649;179638648;179638647 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs780102382  |
-0.254 | 0.722 | D | 0.435 | 0.599 | 0.393006254552 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| D/G | rs780102382 |
-0.254 | 0.722 | D | 0.435 | 0.599 | 0.393006254552 | gnomAD-4.0.0 | 2.7363E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59723E-06 | 0 | 0 |
| D/N | rs1383990376 |
0.216 | 0.014 | N | 0.225 | 0.317 | 0.261217442401 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1383990376 |
0.216 | 0.014 | N | 0.225 | 0.317 | 0.261217442401 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1383990376 |
0.216 | 0.014 | N | 0.225 | 0.317 | 0.261217442401 | gnomAD-4.0.0 | 3.84175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.27026E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.442 | ambiguous | 0.4562 | ambiguous | -0.324 | Destabilizing | 0.565 | D | 0.513 | neutral | D | 0.57712861 | None | None | N |
| D/C | 0.8918 | likely_pathogenic | 0.8985 | pathogenic | 0.058 | Stabilizing | 0.996 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/E | 0.3335 | likely_benign | 0.3409 | ambiguous | -0.453 | Destabilizing | 0.008 | N | 0.276 | neutral | N | 0.5092233 | None | None | N |
| D/F | 0.8377 | likely_pathogenic | 0.8447 | pathogenic | -0.408 | Destabilizing | 0.987 | D | 0.64 | neutral | None | None | None | None | N |
| D/G | 0.2776 | likely_benign | 0.2842 | benign | -0.56 | Destabilizing | 0.722 | D | 0.435 | neutral | D | 0.543881322 | None | None | N |
| D/H | 0.6072 | likely_pathogenic | 0.6168 | pathogenic | -0.619 | Destabilizing | 0.949 | D | 0.443 | neutral | D | 0.57612539 | None | None | N |
| D/I | 0.8391 | likely_pathogenic | 0.8535 | pathogenic | 0.257 | Stabilizing | 0.961 | D | 0.641 | neutral | None | None | None | None | N |
| D/K | 0.7078 | likely_pathogenic | 0.7255 | pathogenic | -0.039 | Destabilizing | 0.633 | D | 0.434 | neutral | None | None | None | None | N |
| D/L | 0.771 | likely_pathogenic | 0.7844 | pathogenic | 0.257 | Stabilizing | 0.923 | D | 0.621 | neutral | None | None | None | None | N |
| D/M | 0.8766 | likely_pathogenic | 0.8851 | pathogenic | 0.61 | Stabilizing | 0.996 | D | 0.645 | neutral | None | None | None | None | N |
| D/N | 0.1344 | likely_benign | 0.1339 | benign | -0.226 | Destabilizing | 0.014 | N | 0.225 | neutral | N | 0.501855308 | None | None | N |
| D/P | 0.9846 | likely_pathogenic | 0.9853 | pathogenic | 0.087 | Stabilizing | 0.961 | D | 0.441 | neutral | None | None | None | None | N |
| D/Q | 0.6551 | likely_pathogenic | 0.6658 | pathogenic | -0.179 | Destabilizing | 0.858 | D | 0.42 | neutral | None | None | None | None | N |
| D/R | 0.7281 | likely_pathogenic | 0.746 | pathogenic | 0.014 | Stabilizing | 0.923 | D | 0.547 | neutral | None | None | None | None | N |
| D/S | 0.3091 | likely_benign | 0.3131 | benign | -0.385 | Destabilizing | 0.633 | D | 0.426 | neutral | None | None | None | None | N |
| D/T | 0.6268 | likely_pathogenic | 0.6427 | pathogenic | -0.21 | Destabilizing | 0.775 | D | 0.452 | neutral | None | None | None | None | N |
| D/V | 0.6388 | likely_pathogenic | 0.6594 | pathogenic | 0.087 | Stabilizing | 0.901 | D | 0.636 | neutral | D | 0.60492913 | None | None | N |
| D/W | 0.9654 | likely_pathogenic | 0.9676 | pathogenic | -0.357 | Destabilizing | 0.996 | D | 0.701 | prob.neutral | None | None | None | None | N |
| D/Y | 0.4173 | ambiguous | 0.4302 | ambiguous | -0.213 | Destabilizing | 0.983 | D | 0.64 | neutral | D | 0.667658288 | 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.