Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31526 | 94801;94802;94803 | chr2:178546852;178546851;178546850 | chr2:179411579;179411578;179411577 |
| N2AB | 29885 | 89878;89879;89880 | chr2:178546852;178546851;178546850 | chr2:179411579;179411578;179411577 |
| N2A | 28958 | 87097;87098;87099 | chr2:178546852;178546851;178546850 | chr2:179411579;179411578;179411577 |
| N2B | 22461 | 67606;67607;67608 | chr2:178546852;178546851;178546850 | chr2:179411579;179411578;179411577 |
| Novex-1 | 22586 | 67981;67982;67983 | chr2:178546852;178546851;178546850 | chr2:179411579;179411578;179411577 |
| Novex-2 | 22653 | 68182;68183;68184 | chr2:178546852;178546851;178546850 | chr2:179411579;179411578;179411577 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | None | None | 0.304 | N | 0.379 | 0.034 | 0.474406357249 | gnomAD-4.0.0 | 1.61651E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.91957E-06 | 0 | 0 |
| I/V | rs534055493  |
-0.943 | None | N | 0.084 | 0.051 | 0.316198179892 | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.68067E-04 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs534055493 |
-0.943 | None | N | 0.084 | 0.051 | 0.316198179892 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs534055493 |
-0.943 | None | N | 0.084 | 0.051 | 0.316198179892 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| I/V | rs534055493 |
-0.943 | None | N | 0.084 | 0.051 | 0.316198179892 | gnomAD-4.0.0 | 3.89599E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.32637E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1923 | likely_benign | 0.1371 | benign | -1.735 | Destabilizing | 0.006 | N | 0.277 | neutral | None | None | None | None | N |
| I/C | 0.4064 | ambiguous | 0.3566 | ambiguous | -0.924 | Destabilizing | None | N | 0.218 | neutral | None | None | None | None | N |
| I/D | 0.6972 | likely_pathogenic | 0.5589 | ambiguous | -1.154 | Destabilizing | 0.033 | N | 0.424 | neutral | None | None | None | None | N |
| I/E | 0.4557 | ambiguous | 0.3587 | ambiguous | -1.028 | Destabilizing | 0.033 | N | 0.431 | neutral | None | None | None | None | N |
| I/F | 0.157 | likely_benign | 0.1312 | benign | -0.941 | Destabilizing | 0.111 | N | 0.347 | neutral | N | 0.464665747 | None | None | N |
| I/G | 0.4697 | ambiguous | 0.3506 | ambiguous | -2.178 | Highly Destabilizing | 0.033 | N | 0.42 | neutral | None | None | None | None | N |
| I/H | 0.2987 | likely_benign | 0.2298 | benign | -1.456 | Destabilizing | 0.54 | D | 0.493 | neutral | None | None | None | None | N |
| I/K | 0.2287 | likely_benign | 0.1928 | benign | -1.017 | Destabilizing | 0.033 | N | 0.429 | neutral | None | None | None | None | N |
| I/L | 0.097 | likely_benign | 0.0883 | benign | -0.529 | Destabilizing | 0.005 | N | 0.255 | neutral | N | 0.430129098 | None | None | N |
| I/M | 0.0851 | likely_benign | 0.0765 | benign | -0.451 | Destabilizing | 0.304 | N | 0.379 | neutral | N | 0.437287144 | None | None | N |
| I/N | 0.2153 | likely_benign | 0.1491 | benign | -1.052 | Destabilizing | 0.001 | N | 0.505 | neutral | N | 0.424048488 | None | None | N |
| I/P | 0.9713 | likely_pathogenic | 0.9548 | pathogenic | -0.903 | Destabilizing | 0.251 | N | 0.515 | neutral | None | None | None | None | N |
| I/Q | 0.2143 | likely_benign | 0.1762 | benign | -1.048 | Destabilizing | 0.142 | N | 0.514 | neutral | None | None | None | None | N |
| I/R | 0.1775 | likely_benign | 0.1481 | benign | -0.67 | Destabilizing | 0.001 | N | 0.513 | neutral | None | None | None | None | N |
| I/S | 0.1497 | likely_benign | 0.1051 | benign | -1.79 | Destabilizing | None | N | 0.322 | neutral | N | 0.313240426 | None | None | N |
| I/T | 0.1323 | likely_benign | 0.0956 | benign | -1.532 | Destabilizing | None | N | 0.206 | neutral | N | 0.370848721 | None | None | N |
| I/V | 0.0755 | likely_benign | 0.0693 | benign | -0.903 | Destabilizing | None | N | 0.084 | neutral | N | 0.378836273 | None | None | N |
| I/W | 0.7332 | likely_pathogenic | 0.6704 | pathogenic | -1.173 | Destabilizing | 0.931 | D | 0.53 | neutral | None | None | None | None | N |
| I/Y | 0.4056 | ambiguous | 0.3493 | ambiguous | -0.864 | Destabilizing | 0.251 | N | 0.542 | 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.