Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8982 | 27169;27170;27171 | chr2:178713190;178713189;178713188 | chr2:179577917;179577916;179577915 |
| N2AB | 8665 | 26218;26219;26220 | chr2:178713190;178713189;178713188 | chr2:179577917;179577916;179577915 |
| N2A | 7738 | 23437;23438;23439 | chr2:178713190;178713189;178713188 | chr2:179577917;179577916;179577915 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs1171558626  |
-2.502 | 0.175 | D | 0.66 | 0.288 | 0.557207555769 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/D | rs1171558626 |
-2.502 | 0.175 | D | 0.66 | 0.288 | 0.557207555769 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 0 |
| A/T | rs1384345252 |
None | 0.001 | N | 0.183 | 0.069 | 0.211220785272 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| A/T | rs1384345252 |
None | 0.001 | N | 0.183 | 0.069 | 0.211220785272 | gnomAD-4.0.0 | 6.19726E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47629E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3774 | ambiguous | 0.3933 | ambiguous | -1.188 | Destabilizing | 0.002 | N | 0.362 | neutral | None | None | None | None | N |
| A/D | 0.3748 | ambiguous | 0.5109 | ambiguous | -2.453 | Highly Destabilizing | 0.175 | N | 0.66 | neutral | D | 0.529691165 | None | None | N |
| A/E | 0.2856 | likely_benign | 0.3765 | ambiguous | -2.342 | Highly Destabilizing | 0.124 | N | 0.65 | neutral | None | None | None | None | N |
| A/F | 0.2108 | likely_benign | 0.2422 | benign | -0.823 | Destabilizing | 0.667 | D | 0.625 | neutral | None | None | None | None | N |
| A/G | 0.1559 | likely_benign | 0.1834 | benign | -1.311 | Destabilizing | 0.096 | N | 0.486 | neutral | N | 0.521514399 | None | None | N |
| A/H | 0.3862 | ambiguous | 0.4151 | ambiguous | -1.788 | Destabilizing | 0.883 | D | 0.603 | neutral | None | None | None | None | N |
| A/I | 0.1633 | likely_benign | 0.1937 | benign | 0.061 | Stabilizing | 0.004 | N | 0.428 | neutral | None | None | None | None | N |
| A/K | 0.392 | ambiguous | 0.4816 | ambiguous | -1.108 | Destabilizing | 0.004 | N | 0.517 | neutral | None | None | None | None | N |
| A/L | 0.1302 | likely_benign | 0.1471 | benign | 0.061 | Stabilizing | 0.055 | N | 0.566 | neutral | None | None | None | None | N |
| A/M | 0.1563 | likely_benign | 0.1754 | benign | -0.121 | Destabilizing | 0.667 | D | 0.627 | neutral | None | None | None | None | N |
| A/N | 0.2477 | likely_benign | 0.3056 | benign | -1.28 | Destabilizing | 0.124 | N | 0.668 | neutral | None | None | None | None | N |
| A/P | 0.8613 | likely_pathogenic | 0.9196 | pathogenic | -0.226 | Destabilizing | 0.602 | D | 0.681 | prob.neutral | N | 0.50720408 | None | None | N |
| A/Q | 0.3106 | likely_benign | 0.3419 | ambiguous | -1.239 | Destabilizing | 0.497 | N | 0.655 | neutral | None | None | None | None | N |
| A/R | 0.3314 | likely_benign | 0.3747 | ambiguous | -1.071 | Destabilizing | 0.331 | N | 0.685 | prob.neutral | None | None | None | None | N |
| A/S | 0.0793 | likely_benign | 0.0829 | benign | -1.582 | Destabilizing | None | N | 0.183 | neutral | N | 0.425177144 | None | None | N |
| A/T | 0.0718 | likely_benign | 0.0788 | benign | -1.37 | Destabilizing | 0.001 | N | 0.183 | neutral | N | 0.43127361 | None | None | N |
| A/V | 0.1015 | likely_benign | 0.119 | benign | -0.226 | Destabilizing | 0.042 | N | 0.469 | neutral | N | 0.459927222 | None | None | N |
| A/W | 0.6347 | likely_pathogenic | 0.6786 | pathogenic | -1.543 | Destabilizing | 0.958 | D | 0.666 | neutral | None | None | None | None | N |
| A/Y | 0.3324 | likely_benign | 0.3874 | ambiguous | -1.003 | Destabilizing | 0.667 | D | 0.613 | 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.