Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5841 | 17746;17747;17748 | chr2:178731144;178731143;178731142 | chr2:179595871;179595870;179595869 |
| N2AB | 5524 | 16795;16796;16797 | chr2:178731144;178731143;178731142 | chr2:179595871;179595870;179595869 |
| N2A | 4597 | 14014;14015;14016 | chr2:178731144;178731143;178731142 | chr2:179595871;179595870;179595869 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1347598272  |
-0.379 | 0.981 | N | 0.557 | 0.245 | 0.16115917748 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1347598272 |
-0.379 | 0.981 | N | 0.557 | 0.245 | 0.16115917748 | gnomAD-4.0.0 | 6.36576E-06 | None | None | None | None | N | None | 0 | 9.14662E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | 0.999 | N | 0.778 | 0.377 | 0.359151904892 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| T/S | rs1347598272 |
None | 0.905 | N | 0.355 | 0.137 | 0.146414634003 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs1347598272 |
None | 0.905 | N | 0.355 | 0.137 | 0.146414634003 | gnomAD-4.0.0 | 6.57281E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93349E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0963 | likely_benign | 0.1232 | benign | -0.438 | Destabilizing | 0.981 | D | 0.557 | neutral | N | 0.457341637 | None | None | N |
| T/C | 0.5108 | ambiguous | 0.6589 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/D | 0.5604 | ambiguous | 0.7503 | pathogenic | 0.255 | Stabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/E | 0.4522 | ambiguous | 0.6008 | pathogenic | 0.28 | Stabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/F | 0.2794 | likely_benign | 0.414 | ambiguous | -0.592 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/G | 0.4277 | ambiguous | 0.5453 | ambiguous | -0.688 | Destabilizing | 0.997 | D | 0.655 | neutral | None | None | None | None | N |
| T/H | 0.3874 | ambiguous | 0.5289 | ambiguous | -0.827 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/I | 0.164 | likely_benign | 0.2398 | benign | 0.126 | Stabilizing | 0.999 | D | 0.778 | deleterious | N | 0.492054631 | None | None | N |
| T/K | 0.4076 | ambiguous | 0.571 | pathogenic | -0.35 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/L | 0.1314 | likely_benign | 0.1815 | benign | 0.126 | Stabilizing | 0.998 | D | 0.638 | neutral | None | None | None | None | N |
| T/M | 0.1056 | likely_benign | 0.1347 | benign | -0.033 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| T/N | 0.1863 | likely_benign | 0.2913 | benign | -0.45 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | N | 0.513662054 | None | None | N |
| T/P | 0.4977 | ambiguous | 0.6501 | pathogenic | -0.029 | Destabilizing | 0.999 | D | 0.781 | deleterious | N | 0.49439952 | None | None | N |
| T/Q | 0.3621 | ambiguous | 0.4806 | ambiguous | -0.463 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/R | 0.3303 | likely_benign | 0.4803 | ambiguous | -0.218 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/S | 0.1392 | likely_benign | 0.1933 | benign | -0.715 | Destabilizing | 0.905 | D | 0.355 | neutral | N | 0.492401347 | None | None | N |
| T/V | 0.1344 | likely_benign | 0.1713 | benign | -0.029 | Destabilizing | 0.998 | D | 0.572 | neutral | None | None | None | None | N |
| T/W | 0.7252 | likely_pathogenic | 0.8108 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| T/Y | 0.3465 | ambiguous | 0.4706 | ambiguous | -0.323 | Destabilizing | 1.0 | D | 0.789 | 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.