Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5181 | 15766;15767;15768 | chr2:178733848;178733847;178733846 | chr2:179598575;179598574;179598573 |
| N2AB | 4864 | 14815;14816;14817 | chr2:178733848;178733847;178733846 | chr2:179598575;179598574;179598573 |
| N2A | 3937 | 12034;12035;12036 | chr2:178733848;178733847;178733846 | chr2:179598575;179598574;179598573 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs201185434  |
-0.218 | None | N | 0.081 | 0.133 | None | gnomAD-2.1.1 | 4.09427E-04 | None | None | None | None | I | None | 4.42515E-03 | 1.99624E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs201185434 |
-0.218 | None | N | 0.081 | 0.133 | None | gnomAD-3.1.2 | 1.00565E-03 | None | None | None | None | I | None | 3.54781E-03 | 3.27482E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.79386E-04 |
| G/A | rs201185434 |
-0.218 | None | N | 0.081 | 0.133 | None | 1000 genomes | 1.39776E-03 | None | None | None | None | I | None | 3.8E-03 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/A | rs201185434 |
-0.218 | None | N | 0.081 | 0.133 | None | gnomAD-4.0.0 | 1.70952E-04 | None | None | None | None | I | None | 3.25785E-03 | 2.01025E-04 | None | 0 | 0 | None | 0 | 0 | 4.25171E-06 | 0 | 2.24965E-04 |
| G/R | rs1477393359 |
-0.489 | 0.001 | N | 0.351 | 0.168 | 0.313518423057 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.11807E-04 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1477393359 |
-0.489 | 0.001 | N | 0.351 | 0.168 | 0.313518423057 | gnomAD-4.0.0 | 6.86807E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02739E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0441 | likely_benign | 0.0399 | benign | -0.493 | Destabilizing | None | N | 0.081 | neutral | N | 0.279310158 | None | None | I |
| G/C | 0.1456 | likely_benign | 0.1568 | benign | -0.871 | Destabilizing | 0.018 | N | 0.463 | neutral | None | None | None | None | I |
| G/D | 0.1488 | likely_benign | 0.1829 | benign | -0.816 | Destabilizing | 0.002 | N | 0.35 | neutral | None | None | None | None | I |
| G/E | 0.1112 | likely_benign | 0.1274 | benign | -0.967 | Destabilizing | 0.001 | N | 0.229 | neutral | N | 0.269379967 | None | None | I |
| G/F | 0.2858 | likely_benign | 0.3162 | benign | -1.128 | Destabilizing | 0.002 | N | 0.38 | neutral | None | None | None | None | I |
| G/H | 0.2434 | likely_benign | 0.2865 | benign | -0.849 | Destabilizing | 0.116 | N | 0.509 | neutral | None | None | None | None | I |
| G/I | 0.1052 | likely_benign | 0.1151 | benign | -0.498 | Destabilizing | None | N | 0.223 | neutral | None | None | None | None | I |
| G/K | 0.2059 | likely_benign | 0.2495 | benign | -1.053 | Destabilizing | 0.001 | N | 0.205 | neutral | None | None | None | None | I |
| G/L | 0.1356 | likely_benign | 0.1462 | benign | -0.498 | Destabilizing | None | N | 0.201 | neutral | None | None | None | None | I |
| G/M | 0.1674 | likely_benign | 0.1811 | benign | -0.405 | Destabilizing | 0.004 | N | 0.405 | neutral | None | None | None | None | I |
| G/N | 0.1633 | likely_benign | 0.1871 | benign | -0.635 | Destabilizing | 0.008 | N | 0.341 | neutral | None | None | None | None | I |
| G/P | 0.2131 | likely_benign | 0.2424 | benign | -0.46 | Destabilizing | 0.002 | N | 0.344 | neutral | None | None | None | None | I |
| G/Q | 0.1724 | likely_benign | 0.2011 | benign | -0.939 | Destabilizing | 0.008 | N | 0.368 | neutral | None | None | None | None | I |
| G/R | 0.1617 | likely_benign | 0.1891 | benign | -0.583 | Destabilizing | 0.001 | N | 0.351 | neutral | N | 0.327066816 | None | None | I |
| G/S | 0.0708 | likely_benign | 0.0702 | benign | -0.802 | Destabilizing | None | N | 0.125 | neutral | None | None | None | None | I |
| G/T | 0.0669 | likely_benign | 0.0675 | benign | -0.887 | Destabilizing | None | N | 0.177 | neutral | None | None | None | None | I |
| G/V | 0.0726 | likely_benign | 0.0738 | benign | -0.46 | Destabilizing | None | N | 0.209 | neutral | N | 0.24012917 | None | None | I |
| G/W | 0.2862 | likely_benign | 0.3224 | benign | -1.311 | Destabilizing | 0.316 | N | 0.493 | neutral | None | None | None | None | I |
| G/Y | 0.2489 | likely_benign | 0.2902 | benign | -0.963 | Destabilizing | 0.008 | N | 0.399 | 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.