Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29746 | 89461;89462;89463 | chr2:178553769;178553768;178553767 | chr2:179418496;179418495;179418494 |
| N2AB | 28105 | 84538;84539;84540 | chr2:178553769;178553768;178553767 | chr2:179418496;179418495;179418494 |
| N2A | 27178 | 81757;81758;81759 | chr2:178553769;178553768;178553767 | chr2:179418496;179418495;179418494 |
| N2B | 20681 | 62266;62267;62268 | chr2:178553769;178553768;178553767 | chr2:179418496;179418495;179418494 |
| Novex-1 | 20806 | 62641;62642;62643 | chr2:178553769;178553768;178553767 | chr2:179418496;179418495;179418494 |
| Novex-2 | 20873 | 62842;62843;62844 | chr2:178553769;178553768;178553767 | chr2:179418496;179418495;179418494 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs1228690169  |
None | 0.477 | N | 0.543 | 0.183 | 0.489243007833 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs1228690169 |
None | 0.477 | N | 0.543 | 0.183 | 0.489243007833 | gnomAD-4.0.0 | 2.58321E-06 | None | None | None | None | N | None | 0 | 1.70648E-05 | None | 0 | 0 | None | 0 | 0 | 2.41575E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1443 | likely_benign | 0.139 | benign | -0.617 | Destabilizing | 0.273 | N | 0.336 | neutral | N | 0.452024523 | None | None | N |
| S/C | 0.1207 | likely_benign | 0.131 | benign | -0.824 | Destabilizing | 0.985 | D | 0.569 | neutral | None | None | None | None | N |
| S/D | 0.9056 | likely_pathogenic | 0.8966 | pathogenic | -1.344 | Destabilizing | 0.707 | D | 0.439 | neutral | None | None | None | None | N |
| S/E | 0.8798 | likely_pathogenic | 0.888 | pathogenic | -1.326 | Destabilizing | 0.707 | D | 0.449 | neutral | None | None | None | None | N |
| S/F | 0.4258 | ambiguous | 0.3979 | ambiguous | -1.098 | Destabilizing | 0.945 | D | 0.675 | neutral | None | None | None | None | N |
| S/G | 0.2329 | likely_benign | 0.2197 | benign | -0.818 | Destabilizing | 0.707 | D | 0.429 | neutral | None | None | None | None | N |
| S/H | 0.5768 | likely_pathogenic | 0.5796 | pathogenic | -1.387 | Destabilizing | 0.995 | D | 0.564 | neutral | None | None | None | None | N |
| S/I | 0.3146 | likely_benign | 0.3108 | benign | -0.186 | Destabilizing | 0.809 | D | 0.655 | neutral | None | None | None | None | N |
| S/K | 0.8829 | likely_pathogenic | 0.8818 | pathogenic | -0.575 | Destabilizing | 0.707 | D | 0.447 | neutral | None | None | None | None | N |
| S/L | 0.2239 | likely_benign | 0.1999 | benign | -0.186 | Destabilizing | 0.477 | N | 0.543 | neutral | N | 0.456083549 | None | None | N |
| S/M | 0.2733 | likely_benign | 0.27 | benign | 0.107 | Stabilizing | 0.985 | D | 0.563 | neutral | None | None | None | None | N |
| S/N | 0.4315 | ambiguous | 0.419 | ambiguous | -0.834 | Destabilizing | 0.707 | D | 0.461 | neutral | None | None | None | None | N |
| S/P | 0.9509 | likely_pathogenic | 0.9449 | pathogenic | -0.3 | Destabilizing | 0.928 | D | 0.589 | neutral | N | 0.478749765 | None | None | N |
| S/Q | 0.7403 | likely_pathogenic | 0.7585 | pathogenic | -1.101 | Destabilizing | 0.945 | D | 0.511 | neutral | None | None | None | None | N |
| S/R | 0.8337 | likely_pathogenic | 0.8343 | pathogenic | -0.439 | Destabilizing | 0.894 | D | 0.593 | neutral | None | None | None | None | N |
| S/T | 0.0843 | likely_benign | 0.0767 | benign | -0.69 | Destabilizing | 0.002 | N | 0.182 | neutral | N | 0.424376562 | None | None | N |
| S/V | 0.293 | likely_benign | 0.2946 | benign | -0.3 | Destabilizing | 0.547 | D | 0.544 | neutral | None | None | None | None | N |
| S/W | 0.5922 | likely_pathogenic | 0.5659 | pathogenic | -1.156 | Destabilizing | 0.995 | D | 0.712 | prob.delet. | None | None | None | None | N |
| S/Y | 0.3211 | likely_benign | 0.3006 | benign | -0.777 | Destabilizing | 0.945 | D | 0.667 | 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.