Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4920 | 14983;14984;14985 | chr2:178735688;178735687;178735686 | chr2:179600415;179600414;179600413 |
| N2AB | 4603 | 14032;14033;14034 | chr2:178735688;178735687;178735686 | chr2:179600415;179600414;179600413 |
| N2A | 3676 | 11251;11252;11253 | chr2:178735688;178735687;178735686 | chr2:179600415;179600414;179600413 |
| 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 | rs1178136076  |
-0.839 | 0.001 | N | 0.169 | 0.101 | 0.139678290688 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1178136076 |
-0.839 | 0.001 | N | 0.169 | 0.101 | 0.139678290688 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs371455094 |
-0.649 | 0.408 | N | 0.493 | 0.266 | 0.273938319068 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/K | rs371455094 |
-0.649 | 0.408 | N | 0.493 | 0.266 | 0.273938319068 | gnomAD-4.0.0 | 6.84233E-07 | None | None | None | None | N | None | 0 | 2.23654E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs371455094 |
0.111 | 0.216 | N | 0.353 | 0.121 | None | gnomAD-2.1.1 | 7.14E-05 | None | None | None | None | N | None | 5.78752E-04 | 0 | None | 0 | 1.54099E-04 | None | 3.27E-05 | None | 0 | 1.56E-05 | 0 |
| T/M | rs371455094 |
0.111 | 0.216 | N | 0.353 | 0.121 | None | gnomAD-3.1.2 | 1.24908E-04 | None | None | None | None | N | None | 4.58782E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs371455094 |
0.111 | 0.216 | N | 0.353 | 0.121 | None | gnomAD-4.0.0 | 4.02826E-05 | None | None | None | None | N | None | 5.74206E-04 | 0 | None | 0 | 6.68866E-05 | None | 0 | 1.64474E-04 | 1.18663E-05 | 4.39174E-05 | 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 | 0.0736 | likely_benign | 0.082 | benign | -0.867 | Destabilizing | 0.001 | N | 0.169 | neutral | N | 0.510287905 | None | None | N |
| T/C | 0.2817 | likely_benign | 0.3417 | ambiguous | -0.394 | Destabilizing | 0.836 | D | 0.507 | neutral | None | None | None | None | N |
| T/D | 0.2609 | likely_benign | 0.3348 | benign | -0.154 | Destabilizing | 0.264 | N | 0.501 | neutral | None | None | None | None | N |
| T/E | 0.2107 | likely_benign | 0.2769 | benign | -0.185 | Destabilizing | 0.002 | N | 0.281 | neutral | None | None | None | None | N |
| T/F | 0.116 | likely_benign | 0.1358 | benign | -1.123 | Destabilizing | 0.557 | D | 0.584 | neutral | None | None | None | None | N |
| T/G | 0.1751 | likely_benign | 0.2223 | benign | -1.082 | Destabilizing | 0.001 | N | 0.389 | neutral | None | None | None | None | N |
| T/H | 0.1705 | likely_benign | 0.2035 | benign | -1.42 | Destabilizing | 0.836 | D | 0.543 | neutral | None | None | None | None | N |
| T/I | 0.0823 | likely_benign | 0.0927 | benign | -0.393 | Destabilizing | 0.01 | N | 0.338 | neutral | None | None | None | None | N |
| T/K | 0.1667 | likely_benign | 0.2033 | benign | -0.649 | Destabilizing | 0.408 | N | 0.493 | neutral | N | 0.477619956 | None | None | N |
| T/L | 0.0675 | likely_benign | 0.0759 | benign | -0.393 | Destabilizing | 0.001 | N | 0.257 | neutral | None | None | None | None | N |
| T/M | 0.071 | likely_benign | 0.0763 | benign | 0.054 | Stabilizing | 0.216 | N | 0.353 | neutral | N | 0.506027544 | None | None | N |
| T/N | 0.0916 | likely_benign | 0.105 | benign | -0.478 | Destabilizing | 0.418 | N | 0.429 | neutral | None | None | None | None | N |
| T/P | 0.3657 | ambiguous | 0.4329 | ambiguous | -0.52 | Destabilizing | 0.523 | D | 0.549 | neutral | D | 0.662938974 | None | None | N |
| T/Q | 0.1618 | likely_benign | 0.1944 | benign | -0.722 | Destabilizing | 0.264 | N | 0.571 | neutral | None | None | None | None | N |
| T/R | 0.1293 | likely_benign | 0.1526 | benign | -0.374 | Destabilizing | 0.579 | D | 0.549 | neutral | N | 0.499121879 | None | None | N |
| T/S | 0.0839 | likely_benign | 0.0923 | benign | -0.766 | Destabilizing | 0.007 | N | 0.208 | neutral | N | 0.493663376 | None | None | N |
| T/V | 0.0853 | likely_benign | 0.0933 | benign | -0.52 | Destabilizing | 0.129 | N | 0.323 | neutral | None | None | None | None | N |
| T/W | 0.3695 | ambiguous | 0.443 | ambiguous | -1.028 | Destabilizing | 0.983 | D | 0.557 | neutral | None | None | None | None | N |
| T/Y | 0.173 | likely_benign | 0.2069 | benign | -0.801 | Destabilizing | 0.836 | D | 0.567 | 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.