Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23028 | 69307;69308;69309 | chr2:178577253;178577252;178577251 | chr2:179441980;179441979;179441978 |
| N2AB | 21387 | 64384;64385;64386 | chr2:178577253;178577252;178577251 | chr2:179441980;179441979;179441978 |
| N2A | 20460 | 61603;61604;61605 | chr2:178577253;178577252;178577251 | chr2:179441980;179441979;179441978 |
| N2B | 13963 | 42112;42113;42114 | chr2:178577253;178577252;178577251 | chr2:179441980;179441979;179441978 |
| Novex-1 | 14088 | 42487;42488;42489 | chr2:178577253;178577252;178577251 | chr2:179441980;179441979;179441978 |
| Novex-2 | 14155 | 42688;42689;42690 | chr2:178577253;178577252;178577251 | chr2:179441980;179441979;179441978 |
| 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/M | rs754823057  |
0.128 | 0.999 | N | 0.642 | 0.346 | 0.716887018219 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.03799E-04 | None | 0 | None | 0 | 3.13E-05 | 0 |
| T/M | rs754823057 |
0.128 | 0.999 | N | 0.642 | 0.346 | 0.716887018219 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93874E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/M | rs754823057 |
0.128 | 0.999 | N | 0.642 | 0.346 | 0.716887018219 | gnomAD-4.0.0 | 9.30193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.47828E-05 | None | 0 | 0 | 1.01742E-05 | 0 | 1.60262E-05 |
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 | 0.1041 | likely_benign | 0.0972 | benign | -0.385 | Destabilizing | 0.91 | D | 0.505 | neutral | N | 0.507083664 | None | None | N |
| T/C | 0.4043 | ambiguous | 0.3875 | ambiguous | -0.221 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| T/D | 0.389 | ambiguous | 0.3582 | ambiguous | 0.061 | Stabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| T/E | 0.2401 | likely_benign | 0.2248 | benign | -0.028 | Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| T/F | 0.2781 | likely_benign | 0.2664 | benign | -0.957 | Destabilizing | 0.996 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/G | 0.2916 | likely_benign | 0.2747 | benign | -0.49 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| T/H | 0.276 | likely_benign | 0.2623 | benign | -0.852 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| T/I | 0.1612 | likely_benign | 0.1549 | benign | -0.229 | Destabilizing | 0.155 | N | 0.315 | neutral | None | None | None | None | N |
| T/K | 0.1929 | likely_benign | 0.1842 | benign | -0.344 | Destabilizing | 0.999 | D | 0.574 | neutral | N | 0.478008764 | None | None | N |
| T/L | 0.118 | likely_benign | 0.1173 | benign | -0.229 | Destabilizing | 0.871 | D | 0.518 | neutral | None | None | None | None | N |
| T/M | 0.0962 | likely_benign | 0.0907 | benign | 0.041 | Stabilizing | 0.999 | D | 0.642 | neutral | N | 0.489606804 | None | None | N |
| T/N | 0.1148 | likely_benign | 0.1127 | benign | -0.109 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| T/P | 0.453 | ambiguous | 0.4082 | ambiguous | -0.254 | Destabilizing | 0.998 | D | 0.629 | neutral | D | 0.528229728 | None | None | N |
| T/Q | 0.1923 | likely_benign | 0.1842 | benign | -0.376 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| T/R | 0.1805 | likely_benign | 0.1731 | benign | -0.072 | Destabilizing | 0.999 | D | 0.629 | neutral | N | 0.480494496 | None | None | N |
| T/S | 0.1049 | likely_benign | 0.1017 | benign | -0.298 | Destabilizing | 0.993 | D | 0.533 | neutral | N | 0.442474825 | None | None | N |
| T/V | 0.1325 | likely_benign | 0.1259 | benign | -0.254 | Destabilizing | 0.871 | D | 0.409 | neutral | None | None | None | None | N |
| T/W | 0.6661 | likely_pathogenic | 0.6346 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/Y | 0.3172 | likely_benign | 0.2989 | benign | -0.675 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | 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.