Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29744 | 89455;89456;89457 | chr2:178553775;178553774;178553773 | chr2:179418502;179418501;179418500 |
| N2AB | 28103 | 84532;84533;84534 | chr2:178553775;178553774;178553773 | chr2:179418502;179418501;179418500 |
| N2A | 27176 | 81751;81752;81753 | chr2:178553775;178553774;178553773 | chr2:179418502;179418501;179418500 |
| N2B | 20679 | 62260;62261;62262 | chr2:178553775;178553774;178553773 | chr2:179418502;179418501;179418500 |
| Novex-1 | 20804 | 62635;62636;62637 | chr2:178553775;178553774;178553773 | chr2:179418502;179418501;179418500 |
| Novex-2 | 20871 | 62836;62837;62838 | chr2:178553775;178553774;178553773 | chr2:179418502;179418501;179418500 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs201592005  |
-0.264 | 0.001 | N | 0.114 | 0.04 | None | gnomAD-2.1.1 | 4.15E-05 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 5.6E-05 | None | 3.47E-05 | None | 0 | 5.51E-05 | 1.72295E-04 |
| A/T | rs201592005 |
-0.264 | 0.001 | N | 0.114 | 0.04 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 2.07039E-04 | 0 |
| A/T | rs201592005 |
-0.264 | 0.001 | N | 0.114 | 0.04 | None | gnomAD-4.0.0 | 2.86767E-05 | None | None | None | None | N | None | 4.0151E-05 | 1.68458E-05 | None | 0 | 2.23584E-05 | None | 1.57154E-05 | 1.65728E-04 | 2.0444E-05 | 1.22606E-04 | 6.44974E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3439 | ambiguous | 0.3456 | ambiguous | -0.798 | Destabilizing | 0.356 | N | 0.399 | neutral | None | None | None | None | N |
| A/D | 0.4124 | ambiguous | 0.3646 | ambiguous | -0.47 | Destabilizing | 0.038 | N | 0.437 | neutral | None | None | None | None | N |
| A/E | 0.3083 | likely_benign | 0.2851 | benign | -0.612 | Destabilizing | None | N | 0.257 | neutral | N | 0.401230344 | None | None | N |
| A/F | 0.2761 | likely_benign | 0.2765 | benign | -0.908 | Destabilizing | 0.214 | N | 0.497 | neutral | None | None | None | None | N |
| A/G | 0.1577 | likely_benign | 0.151 | benign | -0.504 | Destabilizing | 0.012 | N | 0.272 | neutral | N | 0.438153936 | None | None | N |
| A/H | 0.4157 | ambiguous | 0.4286 | ambiguous | -0.475 | Destabilizing | 0.356 | N | 0.383 | neutral | None | None | None | None | N |
| A/I | 0.1276 | likely_benign | 0.1279 | benign | -0.386 | Destabilizing | None | N | 0.152 | neutral | None | None | None | None | N |
| A/K | 0.4105 | ambiguous | 0.4027 | ambiguous | -0.733 | Destabilizing | 0.038 | N | 0.407 | neutral | None | None | None | None | N |
| A/L | 0.1136 | likely_benign | 0.1176 | benign | -0.386 | Destabilizing | 0.007 | N | 0.279 | neutral | None | None | None | None | N |
| A/M | 0.1493 | likely_benign | 0.1563 | benign | -0.4 | Destabilizing | 0.214 | N | 0.415 | neutral | None | None | None | None | N |
| A/N | 0.2374 | likely_benign | 0.2319 | benign | -0.398 | Destabilizing | 0.072 | N | 0.473 | neutral | None | None | None | None | N |
| A/P | 0.553 | ambiguous | 0.5369 | ambiguous | -0.361 | Destabilizing | 0.232 | N | 0.473 | neutral | N | 0.463108309 | None | None | N |
| A/Q | 0.3059 | likely_benign | 0.3173 | benign | -0.685 | Destabilizing | 0.12 | N | 0.517 | neutral | None | None | None | None | N |
| A/R | 0.3494 | ambiguous | 0.3453 | ambiguous | -0.243 | Destabilizing | 0.214 | N | 0.503 | neutral | None | None | None | None | N |
| A/S | 0.0911 | likely_benign | 0.0889 | benign | -0.649 | Destabilizing | 0.002 | N | 0.133 | neutral | N | 0.384335307 | None | None | N |
| A/T | 0.0687 | likely_benign | 0.0692 | benign | -0.709 | Destabilizing | 0.001 | N | 0.114 | neutral | N | 0.357458137 | None | None | N |
| A/V | 0.081 | likely_benign | 0.081 | benign | -0.361 | Destabilizing | None | N | 0.065 | neutral | N | 0.361058589 | None | None | N |
| A/W | 0.6604 | likely_pathogenic | 0.6562 | pathogenic | -1.042 | Destabilizing | 0.864 | D | 0.433 | neutral | None | None | None | None | N |
| A/Y | 0.4007 | ambiguous | 0.4039 | ambiguous | -0.699 | Destabilizing | 0.356 | N | 0.46 | 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.