Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 142 | 649;650;651 | chr2:178800554;178800553;178800552 | chr2:179665281;179665280;179665279 |
| N2AB | 142 | 649;650;651 | chr2:178800554;178800553;178800552 | chr2:179665281;179665280;179665279 |
| N2A | 142 | 649;650;651 | chr2:178800554;178800553;178800552 | chr2:179665281;179665280;179665279 |
| N2B | 142 | 649;650;651 | chr2:178800554;178800553;178800552 | chr2:179665281;179665280;179665279 |
| Novex-1 | 142 | 649;650;651 | chr2:178800554;178800553;178800552 | chr2:179665281;179665280;179665279 |
| Novex-2 | 142 | 649;650;651 | chr2:178800554;178800553;178800552 | chr2:179665281;179665280;179665279 |
| Novex-3 | 142 | 649;650;651 | chr2:178800554;178800553;178800552 | chr2:179665281;179665280;179665279 |
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 | rs765532193  |
-0.275 | 0.944 | N | 0.591 | 0.278 | 0.332646915603 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.416(TCAP) | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs765532193 |
-0.275 | 0.944 | N | 0.591 | 0.278 | 0.332646915603 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | -0.416(TCAP) | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs765532193 |
-0.275 | 0.944 | N | 0.591 | 0.278 | 0.332646915603 | gnomAD-4.0.0 | 3.84156E-06 | None | None | None | -0.416(TCAP) | N | None | 3.38169E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39169E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8297 | likely_pathogenic | 0.8242 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | -0.223(TCAP) | N |
| A/D | 0.6135 | likely_pathogenic | 0.7028 | pathogenic | -0.63 | Destabilizing | 0.998 | D | 0.688 | prob.neutral | N | 0.489807163 | None | -0.262(TCAP) | N |
| A/E | 0.3453 | ambiguous | 0.4384 | ambiguous | -0.742 | Destabilizing | 0.997 | D | 0.697 | prob.neutral | None | None | None | -0.361(TCAP) | N |
| A/F | 0.591 | likely_pathogenic | 0.6609 | pathogenic | -0.901 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | 0.222(TCAP) | N |
| A/G | 0.3699 | ambiguous | 0.4029 | ambiguous | -0.639 | Destabilizing | 0.837 | D | 0.553 | neutral | N | 0.49151397 | None | -0.553(TCAP) | N |
| A/H | 0.6703 | likely_pathogenic | 0.7171 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | 0.384(TCAP) | N |
| A/I | 0.4329 | ambiguous | 0.5178 | ambiguous | -0.389 | Destabilizing | 0.985 | D | 0.615 | neutral | None | None | None | -0.596(TCAP) | N |
| A/K | 0.5705 | likely_pathogenic | 0.6766 | pathogenic | -0.88 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | -0.662(TCAP) | N |
| A/L | 0.3337 | likely_benign | 0.3952 | ambiguous | -0.389 | Destabilizing | 0.985 | D | 0.536 | neutral | None | None | None | -0.596(TCAP) | N |
| A/M | 0.3311 | likely_benign | 0.3814 | ambiguous | -0.451 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | -0.282(TCAP) | N |
| A/N | 0.3783 | ambiguous | 0.4572 | ambiguous | -0.558 | Destabilizing | 0.989 | D | 0.714 | prob.delet. | None | None | None | -0.541(TCAP) | N |
| A/P | 0.9715 | likely_pathogenic | 0.9806 | pathogenic | -0.396 | Destabilizing | 0.998 | D | 0.697 | prob.neutral | N | 0.503210427 | None | -0.582(TCAP) | N |
| A/Q | 0.3149 | likely_benign | 0.377 | ambiguous | -0.797 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | -0.469(TCAP) | N |
| A/R | 0.4675 | ambiguous | 0.5468 | ambiguous | -0.388 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | -0.828(TCAP) | N |
| A/S | 0.1277 | likely_benign | 0.1437 | benign | -0.794 | Destabilizing | 0.796 | D | 0.531 | neutral | N | 0.483703339 | None | -0.348(TCAP) | N |
| A/T | 0.1366 | likely_benign | 0.1648 | benign | -0.823 | Destabilizing | 0.944 | D | 0.591 | neutral | N | 0.467582828 | None | -0.416(TCAP) | N |
| A/V | 0.2259 | likely_benign | 0.2807 | benign | -0.396 | Destabilizing | 0.208 | N | 0.326 | neutral | N | 0.475610947 | None | -0.582(TCAP) | N |
| A/W | 0.929 | likely_pathogenic | 0.9447 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | 0.32(TCAP) | N |
| A/Y | 0.7371 | likely_pathogenic | 0.7902 | pathogenic | -0.745 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | 0.237(TCAP) | 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.