Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24099 | 72520;72521;72522 | chr2:178573837;178573836;178573835 | chr2:179438564;179438563;179438562 |
| N2AB | 22458 | 67597;67598;67599 | chr2:178573837;178573836;178573835 | chr2:179438564;179438563;179438562 |
| N2A | 21531 | 64816;64817;64818 | chr2:178573837;178573836;178573835 | chr2:179438564;179438563;179438562 |
| N2B | 15034 | 45325;45326;45327 | chr2:178573837;178573836;178573835 | chr2:179438564;179438563;179438562 |
| Novex-1 | 15159 | 45700;45701;45702 | chr2:178573837;178573836;178573835 | chr2:179438564;179438563;179438562 |
| Novex-2 | 15226 | 45901;45902;45903 | chr2:178573837;178573836;178573835 | chr2:179438564;179438563;179438562 |
| 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/S | rs748236500  |
-1.161 | 0.477 | N | 0.537 | 0.194 | 0.285698343383 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 1.74662E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/S | rs748236500 |
-1.161 | 0.477 | N | 0.537 | 0.194 | 0.285698343383 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs748236500 |
-1.161 | 0.477 | N | 0.537 | 0.194 | 0.285698343383 | gnomAD-4.0.0 | 1.1562E-05 | None | None | None | None | N | None | 0 | 1.35925E-04 | None | 0 | 0 | None | 0 | 0 | 2.40129E-06 | 0 | 0 |
| A/V | rs781721483 |
-0.238 | 0.645 | N | 0.601 | 0.232 | 0.430010490656 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 1.74601E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/V | rs781721483 |
-0.238 | 0.645 | N | 0.601 | 0.232 | 0.430010490656 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs781721483 |
-0.238 | 0.645 | N | 0.601 | 0.232 | 0.430010490656 | gnomAD-4.0.0 | 1.15533E-05 | None | None | None | None | N | None | 0 | 1.35856E-04 | None | 0 | 0 | None | 0 | 0 | 2.39875E-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 | 0.3695 | ambiguous | 0.3518 | ambiguous | -1.158 | Destabilizing | 0.995 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/D | 0.2354 | likely_benign | 0.2526 | benign | -1.273 | Destabilizing | 0.864 | D | 0.762 | deleterious | N | 0.458580428 | None | None | N |
| A/E | 0.1826 | likely_benign | 0.2008 | benign | -1.311 | Destabilizing | 0.945 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/F | 0.2339 | likely_benign | 0.2529 | benign | -1.253 | Destabilizing | 0.981 | D | 0.797 | deleterious | None | None | None | None | N |
| A/G | 0.1491 | likely_benign | 0.1557 | benign | -1.238 | Destabilizing | 0.006 | N | 0.353 | neutral | D | 0.530115239 | None | None | N |
| A/H | 0.3609 | ambiguous | 0.3644 | ambiguous | -1.317 | Destabilizing | 0.995 | D | 0.792 | deleterious | None | None | None | None | N |
| A/I | 0.1302 | likely_benign | 0.1337 | benign | -0.507 | Destabilizing | 0.894 | D | 0.771 | deleterious | None | None | None | None | N |
| A/K | 0.2952 | likely_benign | 0.3131 | benign | -1.071 | Destabilizing | 0.894 | D | 0.73 | prob.delet. | None | None | None | None | N |
| A/L | 0.1207 | likely_benign | 0.1272 | benign | -0.507 | Destabilizing | 0.707 | D | 0.676 | prob.neutral | None | None | None | None | N |
| A/M | 0.1606 | likely_benign | 0.1672 | benign | -0.443 | Destabilizing | 0.995 | D | 0.762 | deleterious | None | None | None | None | N |
| A/N | 0.1742 | likely_benign | 0.1747 | benign | -0.86 | Destabilizing | 0.894 | D | 0.781 | deleterious | None | None | None | None | N |
| A/P | 0.1573 | likely_benign | 0.1566 | benign | -0.633 | Destabilizing | 0.928 | D | 0.773 | deleterious | N | 0.5217064 | None | None | N |
| A/Q | 0.2355 | likely_benign | 0.2369 | benign | -1.065 | Destabilizing | 0.945 | D | 0.772 | deleterious | None | None | None | None | N |
| A/R | 0.2948 | likely_benign | 0.3021 | benign | -0.73 | Destabilizing | 0.945 | D | 0.772 | deleterious | None | None | None | None | N |
| A/S | 0.0917 | likely_benign | 0.0904 | benign | -1.25 | Destabilizing | 0.477 | N | 0.537 | neutral | N | 0.466775837 | None | None | N |
| A/T | 0.0713 | likely_benign | 0.07 | benign | -1.193 | Destabilizing | 0.053 | N | 0.375 | neutral | N | 0.417656525 | None | None | N |
| A/V | 0.0889 | likely_benign | 0.0911 | benign | -0.633 | Destabilizing | 0.645 | D | 0.601 | neutral | N | 0.44403505 | None | None | N |
| A/W | 0.6236 | likely_pathogenic | 0.6342 | pathogenic | -1.525 | Destabilizing | 0.995 | D | 0.776 | deleterious | None | None | None | None | N |
| A/Y | 0.3353 | likely_benign | 0.3488 | ambiguous | -1.124 | Destabilizing | 0.981 | D | 0.797 | deleterious | 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.