Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8873 | 26842;26843;26844 | chr2:178714041;178714040;178714039 | chr2:179578768;179578767;179578766 |
| N2AB | 8556 | 25891;25892;25893 | chr2:178714041;178714040;178714039 | chr2:179578768;179578767;179578766 |
| N2A | 7629 | 23110;23111;23112 | chr2:178714041;178714040;178714039 | chr2:179578768;179578767;179578766 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs772596633  |
-0.004 | 0.961 | N | 0.35 | 0.179 | 0.16115917748 | gnomAD-2.1.1 | 1.32209E-04 | None | None | None | None | N | None | 8.27E-05 | 9.92851E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs772596633 |
-0.004 | 0.961 | N | 0.35 | 0.179 | 0.16115917748 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 3.93185E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs772596633 |
-0.004 | 0.961 | N | 0.35 | 0.179 | 0.16115917748 | gnomAD-4.0.0 | 8.07342E-05 | None | None | None | None | N | None | 3.38375E-05 | 1.01767E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84544E-05 |
| D/G | rs776032171 |
-0.372 | 0.031 | N | 0.265 | 0.127 | 0.0954503805726 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| D/G | rs776032171 |
-0.372 | 0.031 | N | 0.265 | 0.127 | 0.0954503805726 | gnomAD-4.0.0 | 4.10585E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39726E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1791 | likely_benign | 0.1919 | benign | -0.584 | Destabilizing | 0.961 | D | 0.365 | neutral | N | 0.460731646 | None | None | N |
| D/C | 0.5606 | ambiguous | 0.5693 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.535 | neutral | None | None | None | None | N |
| D/E | 0.2311 | likely_benign | 0.2805 | benign | -0.354 | Destabilizing | 0.961 | D | 0.35 | neutral | N | 0.447282346 | None | None | N |
| D/F | 0.6488 | likely_pathogenic | 0.6882 | pathogenic | -0.248 | Destabilizing | 0.999 | D | 0.47 | neutral | None | None | None | None | N |
| D/G | 0.1156 | likely_benign | 0.107 | benign | -0.839 | Destabilizing | 0.031 | N | 0.265 | neutral | N | 0.362162162 | None | None | N |
| D/H | 0.2862 | likely_benign | 0.3063 | benign | -0.186 | Destabilizing | 1.0 | D | 0.319 | neutral | N | 0.470409922 | None | None | N |
| D/I | 0.4743 | ambiguous | 0.5532 | ambiguous | 0.065 | Stabilizing | 0.999 | D | 0.473 | neutral | None | None | None | None | N |
| D/K | 0.4388 | ambiguous | 0.4466 | ambiguous | 0.095 | Stabilizing | 0.942 | D | 0.303 | neutral | None | None | None | None | N |
| D/L | 0.4412 | ambiguous | 0.4783 | ambiguous | 0.065 | Stabilizing | 0.991 | D | 0.444 | neutral | None | None | None | None | N |
| D/M | 0.6436 | likely_pathogenic | 0.7139 | pathogenic | 0.318 | Stabilizing | 1.0 | D | 0.476 | neutral | None | None | None | None | N |
| D/N | 0.0779 | likely_benign | 0.0781 | benign | -0.395 | Destabilizing | 0.98 | D | 0.367 | neutral | N | 0.429792664 | None | None | N |
| D/P | 0.7924 | likely_pathogenic | 0.7978 | pathogenic | -0.129 | Destabilizing | 0.999 | D | 0.324 | neutral | None | None | None | None | N |
| D/Q | 0.3903 | ambiguous | 0.4244 | ambiguous | -0.307 | Destabilizing | 0.991 | D | 0.343 | neutral | None | None | None | None | N |
| D/R | 0.4525 | ambiguous | 0.4701 | ambiguous | 0.316 | Stabilizing | 0.191 | N | 0.26 | neutral | None | None | None | None | N |
| D/S | 0.0868 | likely_benign | 0.0894 | benign | -0.523 | Destabilizing | 0.97 | D | 0.321 | neutral | None | None | None | None | N |
| D/T | 0.1879 | likely_benign | 0.2099 | benign | -0.308 | Destabilizing | 0.985 | D | 0.309 | neutral | None | None | None | None | N |
| D/V | 0.3024 | likely_benign | 0.3559 | ambiguous | -0.129 | Destabilizing | 0.994 | D | 0.462 | neutral | N | 0.479106763 | None | None | N |
| D/W | 0.8817 | likely_pathogenic | 0.8997 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | N |
| D/Y | 0.2943 | likely_benign | 0.3164 | benign | 0.011 | Stabilizing | 0.998 | D | 0.472 | neutral | N | 0.491227912 | 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.