Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5663 | 17212;17213;17214 | chr2:178731888;178731887;178731886 | chr2:179596615;179596614;179596613 |
| N2AB | 5346 | 16261;16262;16263 | chr2:178731888;178731887;178731886 | chr2:179596615;179596614;179596613 |
| N2A | 4419 | 13480;13481;13482 | chr2:178731888;178731887;178731886 | chr2:179596615;179596614;179596613 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1370225459  |
0.154 | 0.984 | N | 0.527 | 0.363 | 0.511275995344 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/I | rs1370225459 |
0.154 | 0.984 | N | 0.527 | 0.363 | 0.511275995344 | gnomAD-4.0.0 | 6.15816E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09556E-06 | 0 | 0 |
| T/P | rs1385425356 |
-0.109 | 0.984 | N | 0.521 | 0.312 | 0.587058026133 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs1385425356 |
-0.109 | 0.984 | N | 0.521 | 0.312 | 0.587058026133 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | I | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | 0.046 | N | 0.217 | 0.115 | 0.159798565429 | gnomAD-4.0.0 | 1.36848E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79901E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2528 | likely_benign | 0.3087 | benign | -0.396 | Destabilizing | 0.64 | D | 0.429 | neutral | N | 0.491807567 | None | None | I |
| T/C | 0.749 | likely_pathogenic | 0.8431 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | I |
| T/D | 0.6031 | likely_pathogenic | 0.7038 | pathogenic | 0.165 | Stabilizing | 0.919 | D | 0.565 | neutral | None | None | None | None | I |
| T/E | 0.627 | likely_pathogenic | 0.6789 | pathogenic | 0.148 | Stabilizing | 0.919 | D | 0.562 | neutral | None | None | None | None | I |
| T/F | 0.5244 | ambiguous | 0.6027 | pathogenic | -0.755 | Destabilizing | 0.996 | D | 0.691 | prob.neutral | None | None | None | None | I |
| T/G | 0.5378 | ambiguous | 0.6634 | pathogenic | -0.576 | Destabilizing | 0.851 | D | 0.604 | neutral | None | None | None | None | I |
| T/H | 0.4886 | ambiguous | 0.5967 | pathogenic | -0.649 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | None | None | None | None | I |
| T/I | 0.5665 | likely_pathogenic | 0.5993 | pathogenic | -0.027 | Destabilizing | 0.984 | D | 0.527 | neutral | N | 0.502621994 | None | None | I |
| T/K | 0.5573 | ambiguous | 0.6598 | pathogenic | -0.373 | Destabilizing | 0.919 | D | 0.565 | neutral | None | None | None | None | I |
| T/L | 0.2895 | likely_benign | 0.35 | ambiguous | -0.027 | Destabilizing | 0.919 | D | 0.533 | neutral | None | None | None | None | I |
| T/M | 0.1827 | likely_benign | 0.2027 | benign | -0.239 | Destabilizing | 0.999 | D | 0.56 | neutral | None | None | None | None | I |
| T/N | 0.2464 | likely_benign | 0.3191 | benign | -0.36 | Destabilizing | 0.896 | D | 0.496 | neutral | N | 0.462716811 | None | None | I |
| T/P | 0.5518 | ambiguous | 0.6193 | pathogenic | -0.12 | Destabilizing | 0.984 | D | 0.521 | neutral | N | 0.484935996 | None | None | I |
| T/Q | 0.4929 | ambiguous | 0.5783 | pathogenic | -0.44 | Destabilizing | 0.988 | D | 0.559 | neutral | None | None | None | None | I |
| T/R | 0.4928 | ambiguous | 0.6325 | pathogenic | -0.12 | Destabilizing | 0.976 | D | 0.55 | neutral | None | None | None | None | I |
| T/S | 0.1309 | likely_benign | 0.1719 | benign | -0.577 | Destabilizing | 0.046 | N | 0.217 | neutral | N | 0.42106219 | None | None | I |
| T/V | 0.4843 | ambiguous | 0.5136 | ambiguous | -0.12 | Destabilizing | 0.919 | D | 0.453 | neutral | None | None | None | None | I |
| T/W | 0.801 | likely_pathogenic | 0.8671 | pathogenic | -0.826 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | I |
| T/Y | 0.4949 | ambiguous | 0.6055 | pathogenic | -0.508 | Destabilizing | 0.996 | D | 0.7 | prob.neutral | None | None | None | None | I |
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.