Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6001 | 18226;18227;18228 | chr2:178730532;178730531;178730530 | chr2:179595259;179595258;179595257 |
| N2AB | 5684 | 17275;17276;17277 | chr2:178730532;178730531;178730530 | chr2:179595259;179595258;179595257 |
| N2A | 4757 | 14494;14495;14496 | chr2:178730532;178730531;178730530 | chr2:179595259;179595258;179595257 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs765081807  |
0.089 | 0.953 | N | 0.481 | 0.347 | 0.258283824007 | 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 |
| Q/E | rs765081807 |
0.089 | 0.953 | N | 0.481 | 0.347 | 0.258283824007 | gnomAD-4.0.0 | 2.0542E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.48181E-05 | 0 |
| Q/H | rs142833401 |
-0.879 | 0.265 | N | 0.307 | 0.166 | 0.246215685461 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/H | rs142833401 |
-0.879 | 0.265 | N | 0.307 | 0.166 | 0.246215685461 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs142833401 |
-0.879 | 0.265 | N | 0.307 | 0.166 | 0.246215685461 | gnomAD-4.0.0 | 1.3142E-05 | None | None | None | None | N | None | 4.82462E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2277 | likely_benign | 0.2208 | benign | -0.703 | Destabilizing | 0.993 | D | 0.552 | neutral | None | None | None | None | N |
| Q/C | 0.6164 | likely_pathogenic | 0.5161 | ambiguous | 0.131 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Q/D | 0.3146 | likely_benign | 0.3269 | benign | -0.59 | Destabilizing | 0.993 | D | 0.465 | neutral | None | None | None | None | N |
| Q/E | 0.0764 | likely_benign | 0.0805 | benign | -0.521 | Destabilizing | 0.953 | D | 0.481 | neutral | N | 0.383290449 | None | None | N |
| Q/F | 0.5759 | likely_pathogenic | 0.5181 | ambiguous | -0.467 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | N |
| Q/G | 0.3236 | likely_benign | 0.3189 | benign | -1.042 | Destabilizing | 0.993 | D | 0.587 | neutral | None | None | None | None | N |
| Q/H | 0.1581 | likely_benign | 0.1394 | benign | -0.933 | Destabilizing | 0.265 | N | 0.307 | neutral | N | 0.520148962 | None | None | N |
| Q/I | 0.2564 | likely_benign | 0.2573 | benign | 0.154 | Stabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| Q/K | 0.0836 | likely_benign | 0.0876 | benign | -0.426 | Destabilizing | 0.99 | D | 0.499 | neutral | N | 0.492652929 | None | None | N |
| Q/L | 0.1335 | likely_benign | 0.1257 | benign | 0.154 | Stabilizing | 0.99 | D | 0.589 | neutral | D | 0.522938551 | None | None | N |
| Q/M | 0.3372 | likely_benign | 0.3253 | benign | 0.736 | Stabilizing | 0.999 | D | 0.525 | neutral | None | None | None | None | N |
| Q/N | 0.2729 | likely_benign | 0.2583 | benign | -0.862 | Destabilizing | 0.985 | D | 0.477 | neutral | None | None | None | None | N |
| Q/P | 0.4856 | ambiguous | 0.4695 | ambiguous | -0.101 | Destabilizing | 0.999 | D | 0.658 | neutral | N | 0.49981102 | None | None | N |
| Q/R | 0.092 | likely_benign | 0.088 | benign | -0.313 | Destabilizing | 0.99 | D | 0.492 | neutral | N | 0.481649289 | None | None | N |
| Q/S | 0.2152 | likely_benign | 0.2046 | benign | -0.932 | Destabilizing | 0.993 | D | 0.452 | neutral | None | None | None | None | N |
| Q/T | 0.1404 | likely_benign | 0.1413 | benign | -0.676 | Destabilizing | 0.998 | D | 0.576 | neutral | None | None | None | None | N |
| Q/V | 0.1807 | likely_benign | 0.1773 | benign | -0.101 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| Q/W | 0.4745 | ambiguous | 0.4267 | ambiguous | -0.359 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Q/Y | 0.3817 | ambiguous | 0.3271 | benign | -0.163 | Destabilizing | 0.996 | D | 0.649 | 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.