Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24032 | 72319;72320;72321 | chr2:178574038;178574037;178574036 | chr2:179438765;179438764;179438763 |
| N2AB | 22391 | 67396;67397;67398 | chr2:178574038;178574037;178574036 | chr2:179438765;179438764;179438763 |
| N2A | 21464 | 64615;64616;64617 | chr2:178574038;178574037;178574036 | chr2:179438765;179438764;179438763 |
| N2B | 14967 | 45124;45125;45126 | chr2:178574038;178574037;178574036 | chr2:179438765;179438764;179438763 |
| Novex-1 | 15092 | 45499;45500;45501 | chr2:178574038;178574037;178574036 | chr2:179438765;179438764;179438763 |
| Novex-2 | 15159 | 45700;45701;45702 | chr2:178574038;178574037;178574036 | chr2:179438765;179438764;179438763 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1559432720  |
None | 1.0 | N | 0.657 | 0.621 | 0.446211707333 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| D/G | rs1559432720 |
None | 1.0 | N | 0.657 | 0.621 | 0.446211707333 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-06 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.645 | 0.486 | 0.481099667738 | gnomAD-4.0.0 | 1.59207E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2736 | likely_benign | 0.2633 | benign | -0.27 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.527359023 | None | None | N |
| D/C | 0.8527 | likely_pathogenic | 0.8281 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/E | 0.3949 | ambiguous | 0.3743 | ambiguous | -0.4 | Destabilizing | 1.0 | D | 0.493 | neutral | N | 0.503061924 | None | None | N |
| D/F | 0.8582 | likely_pathogenic | 0.8442 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| D/G | 0.297 | likely_benign | 0.2734 | benign | -0.556 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.517016676 | None | None | N |
| D/H | 0.5701 | likely_pathogenic | 0.5236 | ambiguous | 0.419 | Stabilizing | 1.0 | D | 0.673 | neutral | D | 0.528626471 | None | None | N |
| D/I | 0.7324 | likely_pathogenic | 0.6932 | pathogenic | 0.465 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/K | 0.7505 | likely_pathogenic | 0.7162 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/L | 0.6496 | likely_pathogenic | 0.6196 | pathogenic | 0.465 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| D/M | 0.846 | likely_pathogenic | 0.831 | pathogenic | 0.469 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| D/N | 0.165 | likely_benign | 0.1586 | benign | -0.489 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.515495738 | None | None | N |
| D/P | 0.6529 | likely_pathogenic | 0.6281 | pathogenic | 0.244 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/Q | 0.6991 | likely_pathogenic | 0.6492 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| D/R | 0.7529 | likely_pathogenic | 0.717 | pathogenic | 0.458 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| D/S | 0.2193 | likely_benign | 0.2044 | benign | -0.61 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| D/T | 0.5065 | ambiguous | 0.4723 | ambiguous | -0.368 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/V | 0.4931 | ambiguous | 0.4566 | ambiguous | 0.244 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.528626471 | None | None | N |
| D/W | 0.9568 | likely_pathogenic | 0.9495 | pathogenic | 0.429 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/Y | 0.5168 | ambiguous | 0.4697 | ambiguous | 0.48 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.52913345 | 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.