Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33039 | 99340;99341;99342 | chr2:178538714;178538713;178538712 | chr2:179403441;179403440;179403439 |
| N2AB | 31398 | 94417;94418;94419 | chr2:178538714;178538713;178538712 | chr2:179403441;179403440;179403439 |
| N2A | 30471 | 91636;91637;91638 | chr2:178538714;178538713;178538712 | chr2:179403441;179403440;179403439 |
| N2B | 23974 | 72145;72146;72147 | chr2:178538714;178538713;178538712 | chr2:179403441;179403440;179403439 |
| Novex-1 | 24099 | 72520;72521;72522 | chr2:178538714;178538713;178538712 | chr2:179403441;179403440;179403439 |
| Novex-2 | 24166 | 72721;72722;72723 | chr2:178538714;178538713;178538712 | chr2:179403441;179403440;179403439 |
| 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 | rs775875875  |
-0.345 | 0.4 | N | 0.099 | 0.202 | 0.165133752707 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 9.66E-05 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| Q/E | rs775875875 |
-0.345 | 0.4 | N | 0.099 | 0.202 | 0.165133752707 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Q/E | rs775875875 |
-0.345 | 0.4 | N | 0.099 | 0.202 | 0.165133752707 | gnomAD-4.0.0 | 8.67606E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.35126E-04 | 0 | None | 0 | 0 | 7.62868E-06 | 0 | 1.60113E-05 |
| Q/H | None | None | 0.999 | N | 0.481 | 0.305 | 0.230578612272 | gnomAD-4.0.0 | 6.84217E-07 | None | None | None | None | N | None | 2.98846E-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 | 0.1992 | likely_benign | 0.2322 | benign | -0.818 | Destabilizing | 0.985 | D | 0.44 | neutral | None | None | None | None | N |
| Q/C | 0.6545 | likely_pathogenic | 0.7276 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| Q/D | 0.5901 | likely_pathogenic | 0.6493 | pathogenic | -0.471 | Destabilizing | 0.971 | D | 0.381 | neutral | None | None | None | None | N |
| Q/E | 0.1176 | likely_benign | 0.1186 | benign | -0.35 | Destabilizing | 0.4 | N | 0.099 | neutral | N | 0.330735682 | None | None | N |
| Q/F | 0.745 | likely_pathogenic | 0.8074 | pathogenic | -0.46 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| Q/G | 0.3649 | ambiguous | 0.4261 | ambiguous | -1.192 | Destabilizing | 0.993 | D | 0.536 | neutral | None | None | None | None | N |
| Q/H | 0.3222 | likely_benign | 0.3831 | ambiguous | -0.857 | Destabilizing | 0.999 | D | 0.481 | neutral | N | 0.492431138 | None | None | N |
| Q/I | 0.3318 | likely_benign | 0.3832 | ambiguous | 0.146 | Stabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| Q/K | 0.0998 | likely_benign | 0.1102 | benign | -0.318 | Destabilizing | 0.4 | N | 0.151 | neutral | N | 0.402174493 | None | None | N |
| Q/L | 0.13 | likely_benign | 0.1484 | benign | 0.146 | Stabilizing | 0.99 | D | 0.525 | neutral | N | 0.4684582 | None | None | N |
| Q/M | 0.3205 | likely_benign | 0.3585 | ambiguous | 0.541 | Stabilizing | 0.999 | D | 0.481 | neutral | None | None | None | None | N |
| Q/N | 0.3457 | ambiguous | 0.4028 | ambiguous | -0.945 | Destabilizing | 0.993 | D | 0.427 | neutral | None | None | None | None | N |
| Q/P | 0.1156 | likely_benign | 0.1287 | benign | -0.144 | Destabilizing | 0.999 | D | 0.471 | neutral | N | 0.450851087 | None | None | N |
| Q/R | 0.1513 | likely_benign | 0.1664 | benign | -0.24 | Destabilizing | 0.961 | D | 0.416 | neutral | N | 0.440271521 | None | None | N |
| Q/S | 0.2876 | likely_benign | 0.3332 | benign | -1.092 | Destabilizing | 0.985 | D | 0.383 | neutral | None | None | None | None | N |
| Q/T | 0.2359 | likely_benign | 0.2671 | benign | -0.763 | Destabilizing | 0.993 | D | 0.461 | neutral | None | None | None | None | N |
| Q/V | 0.2279 | likely_benign | 0.2622 | benign | -0.144 | Destabilizing | 0.993 | D | 0.509 | neutral | None | None | None | None | N |
| Q/W | 0.7697 | likely_pathogenic | 0.8465 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| Q/Y | 0.6095 | likely_pathogenic | 0.6915 | pathogenic | -0.079 | Destabilizing | 0.999 | D | 0.549 | 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.