Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28100 | 84523;84524;84525 | chr2:178561834;178561833;178561832 | chr2:179426561;179426560;179426559 |
| N2AB | 26459 | 79600;79601;79602 | chr2:178561834;178561833;178561832 | chr2:179426561;179426560;179426559 |
| N2A | 25532 | 76819;76820;76821 | chr2:178561834;178561833;178561832 | chr2:179426561;179426560;179426559 |
| N2B | 19035 | 57328;57329;57330 | chr2:178561834;178561833;178561832 | chr2:179426561;179426560;179426559 |
| Novex-1 | 19160 | 57703;57704;57705 | chr2:178561834;178561833;178561832 | chr2:179426561;179426560;179426559 |
| Novex-2 | 19227 | 57904;57905;57906 | chr2:178561834;178561833;178561832 | chr2:179426561;179426560;179426559 |
| 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 | rs779244941  |
0.007 | 0.994 | N | 0.563 | 0.425 | 0.40528724903 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs779244941 |
0.007 | 0.994 | N | 0.563 | 0.425 | 0.40528724903 | gnomAD-4.0.0 | 3.18338E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8659E-05 | 0 |
| T/K | None | None | 0.919 | N | 0.518 | 0.342 | 0.351614576976 | gnomAD-4.0.0 | 1.59169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85856E-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 | 0.0787 | likely_benign | 0.0727 | benign | -0.253 | Destabilizing | 0.958 | D | 0.479 | neutral | N | 0.469764922 | None | None | N |
| T/C | 0.5461 | ambiguous | 0.4579 | ambiguous | -0.29 | Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| T/D | 0.417 | ambiguous | 0.2881 | benign | 0.147 | Stabilizing | 0.995 | D | 0.572 | neutral | None | None | None | None | N |
| T/E | 0.3701 | ambiguous | 0.2594 | benign | 0.058 | Stabilizing | 0.991 | D | 0.52 | neutral | None | None | None | None | N |
| T/F | 0.4432 | ambiguous | 0.3633 | ambiguous | -0.919 | Destabilizing | 0.998 | D | 0.617 | neutral | None | None | None | None | N |
| T/G | 0.2377 | likely_benign | 0.1935 | benign | -0.319 | Destabilizing | 0.991 | D | 0.505 | neutral | None | None | None | None | N |
| T/H | 0.3569 | ambiguous | 0.2734 | benign | -0.503 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| T/I | 0.2629 | likely_benign | 0.2157 | benign | -0.203 | Destabilizing | 0.994 | D | 0.563 | neutral | N | 0.479206371 | None | None | N |
| T/K | 0.256 | likely_benign | 0.1841 | benign | -0.225 | Destabilizing | 0.919 | D | 0.518 | neutral | N | 0.479653842 | None | None | N |
| T/L | 0.1251 | likely_benign | 0.1118 | benign | -0.203 | Destabilizing | 0.968 | D | 0.525 | neutral | None | None | None | None | N |
| T/M | 0.1081 | likely_benign | 0.0985 | benign | -0.15 | Destabilizing | 1.0 | D | 0.598 | neutral | None | None | None | None | N |
| T/N | 0.1313 | likely_benign | 0.1035 | benign | -0.013 | Destabilizing | 0.991 | D | 0.543 | neutral | None | None | None | None | N |
| T/P | 0.1083 | likely_benign | 0.094 | benign | -0.195 | Destabilizing | 0.998 | D | 0.552 | neutral | N | 0.483963583 | None | None | N |
| T/Q | 0.2471 | likely_benign | 0.1921 | benign | -0.218 | Destabilizing | 0.991 | D | 0.559 | neutral | None | None | None | None | N |
| T/R | 0.2251 | likely_benign | 0.1686 | benign | 0.051 | Stabilizing | 0.142 | N | 0.457 | neutral | N | 0.512843696 | None | None | N |
| T/S | 0.1118 | likely_benign | 0.0961 | benign | -0.201 | Destabilizing | 0.958 | D | 0.457 | neutral | N | 0.4662819 | None | None | N |
| T/V | 0.1831 | likely_benign | 0.1527 | benign | -0.195 | Destabilizing | 0.984 | D | 0.483 | neutral | None | None | None | None | N |
| T/W | 0.787 | likely_pathogenic | 0.7133 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| T/Y | 0.4468 | ambiguous | 0.3577 | ambiguous | -0.667 | Destabilizing | 0.998 | D | 0.615 | 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.