Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20220 | 60883;60884;60885 | chr2:178591067;178591066;178591065 | chr2:179455794;179455793;179455792 |
| N2AB | 18579 | 55960;55961;55962 | chr2:178591067;178591066;178591065 | chr2:179455794;179455793;179455792 |
| N2A | 17652 | 53179;53180;53181 | chr2:178591067;178591066;178591065 | chr2:179455794;179455793;179455792 |
| N2B | 11155 | 33688;33689;33690 | chr2:178591067;178591066;178591065 | chr2:179455794;179455793;179455792 |
| Novex-1 | 11280 | 34063;34064;34065 | chr2:178591067;178591066;178591065 | chr2:179455794;179455793;179455792 |
| Novex-2 | 11347 | 34264;34265;34266 | chr2:178591067;178591066;178591065 | chr2:179455794;179455793;179455792 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1273167845  |
-0.133 | 1.0 | N | 0.629 | 0.317 | 0.327686398923 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/A | rs1273167845 |
-0.133 | 1.0 | N | 0.629 | 0.317 | 0.327686398923 | gnomAD-4.0.0 | 6.84362E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99614E-07 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.717 | 0.356 | 0.418467456957 | gnomAD-4.0.0 | 6.84362E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99614E-07 | 0 | 0 |
| G/R | rs1342105365 |
-0.323 | 1.0 | N | 0.657 | 0.347 | 0.401042353794 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1342105365 |
-0.323 | 1.0 | N | 0.657 | 0.347 | 0.401042353794 | gnomAD-4.0.0 | 1.5921E-06 | None | None | None | None | N | None | 0 | 2.2877E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1145 | likely_benign | 0.1269 | benign | -0.446 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.434822842 | None | None | N |
| G/C | 0.184 | likely_benign | 0.1925 | benign | -0.775 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.469291643 | None | None | N |
| G/D | 0.3299 | likely_benign | 0.4131 | ambiguous | -0.559 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.474746667 | None | None | N |
| G/E | 0.2537 | likely_benign | 0.3357 | benign | -0.665 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/F | 0.5711 | likely_pathogenic | 0.596 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| G/H | 0.4122 | ambiguous | 0.4715 | ambiguous | -0.806 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| G/I | 0.2121 | likely_benign | 0.2273 | benign | -0.316 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| G/K | 0.4838 | ambiguous | 0.5625 | ambiguous | -0.991 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/L | 0.3724 | ambiguous | 0.4028 | ambiguous | -0.316 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/M | 0.3412 | ambiguous | 0.3532 | ambiguous | -0.404 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| G/N | 0.2782 | likely_benign | 0.3276 | benign | -0.627 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/P | 0.9263 | likely_pathogenic | 0.9345 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/Q | 0.3715 | ambiguous | 0.4336 | ambiguous | -0.838 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/R | 0.3844 | ambiguous | 0.4584 | ambiguous | -0.604 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.43742043 | None | None | N |
| G/S | 0.1014 | likely_benign | 0.1141 | benign | -0.845 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.39709396 | None | None | N |
| G/T | 0.1221 | likely_benign | 0.1384 | benign | -0.872 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| G/V | 0.1349 | likely_benign | 0.1506 | benign | -0.321 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.384818096 | None | None | N |
| G/W | 0.4173 | ambiguous | 0.4533 | ambiguous | -1.162 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/Y | 0.4258 | ambiguous | 0.4572 | ambiguous | -0.77 | Destabilizing | 1.0 | D | 0.699 | prob.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.