Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21376 | 64351;64352;64353 | chr2:178586775;178586774;178586773 | chr2:179451502;179451501;179451500 |
| N2AB | 19735 | 59428;59429;59430 | chr2:178586775;178586774;178586773 | chr2:179451502;179451501;179451500 |
| N2A | 18808 | 56647;56648;56649 | chr2:178586775;178586774;178586773 | chr2:179451502;179451501;179451500 |
| N2B | 12311 | 37156;37157;37158 | chr2:178586775;178586774;178586773 | chr2:179451502;179451501;179451500 |
| Novex-1 | 12436 | 37531;37532;37533 | chr2:178586775;178586774;178586773 | chr2:179451502;179451501;179451500 |
| Novex-2 | 12503 | 37732;37733;37734 | chr2:178586775;178586774;178586773 | chr2:179451502;179451501;179451500 |
| 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/A | rs368683686  |
-0.527 | 0.906 | N | 0.393 | 0.183 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs368683686 |
-0.527 | 0.906 | N | 0.393 | 0.183 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs368683686 |
-0.527 | 0.906 | N | 0.393 | 0.183 | None | gnomAD-4.0.0 | 8.12071E-06 | None | None | None | None | N | None | 1.74801E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.43512E-06 | 0 | 0 |
| T/S | rs1437293840 |
-0.433 | 0.986 | N | 0.4 | 0.201 | 0.224531998449 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| T/S | rs1437293840 |
-0.433 | 0.986 | N | 0.4 | 0.201 | 0.224531998449 | gnomAD-4.0.0 | 4.10739E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39906E-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 | 0.105 | likely_benign | 0.1111 | benign | -0.392 | Destabilizing | 0.906 | D | 0.393 | neutral | N | 0.498069031 | None | None | N |
| T/C | 0.4533 | ambiguous | 0.4571 | ambiguous | -0.23 | Destabilizing | 0.999 | D | 0.455 | neutral | None | None | None | None | N |
| T/D | 0.5891 | likely_pathogenic | 0.5812 | pathogenic | 0.09 | Stabilizing | 0.997 | D | 0.455 | neutral | None | None | None | None | N |
| T/E | 0.3984 | ambiguous | 0.3714 | ambiguous | 0.019 | Stabilizing | 0.997 | D | 0.451 | neutral | None | None | None | None | N |
| T/F | 0.3352 | likely_benign | 0.3217 | benign | -0.802 | Destabilizing | 0.982 | D | 0.489 | neutral | None | None | None | None | N |
| T/G | 0.2684 | likely_benign | 0.2924 | benign | -0.544 | Destabilizing | 0.99 | D | 0.463 | neutral | None | None | None | None | N |
| T/H | 0.3606 | ambiguous | 0.353 | ambiguous | -0.846 | Destabilizing | 0.999 | D | 0.504 | neutral | None | None | None | None | N |
| T/I | 0.1609 | likely_benign | 0.1506 | benign | -0.109 | Destabilizing | 0.134 | N | 0.267 | neutral | N | 0.492604496 | None | None | N |
| T/K | 0.211 | likely_benign | 0.1899 | benign | -0.42 | Destabilizing | 0.997 | D | 0.446 | neutral | None | None | None | None | N |
| T/L | 0.0843 | likely_benign | 0.084 | benign | -0.109 | Destabilizing | 0.02 | N | 0.199 | neutral | None | None | None | None | N |
| T/M | 0.0814 | likely_benign | 0.0812 | benign | 0.109 | Stabilizing | 0.982 | D | 0.47 | neutral | None | None | None | None | N |
| T/N | 0.1993 | likely_benign | 0.1988 | benign | -0.185 | Destabilizing | 0.996 | D | 0.446 | neutral | N | 0.516193432 | None | None | N |
| T/P | 0.4176 | ambiguous | 0.4215 | ambiguous | -0.174 | Destabilizing | 0.996 | D | 0.469 | neutral | N | 0.474348207 | None | None | N |
| T/Q | 0.2599 | likely_benign | 0.2494 | benign | -0.434 | Destabilizing | 0.997 | D | 0.474 | neutral | None | None | None | None | N |
| T/R | 0.2056 | likely_benign | 0.1816 | benign | -0.121 | Destabilizing | 0.997 | D | 0.467 | neutral | None | None | None | None | N |
| T/S | 0.1423 | likely_benign | 0.1492 | benign | -0.404 | Destabilizing | 0.986 | D | 0.4 | neutral | N | 0.452216524 | None | None | N |
| T/V | 0.1151 | likely_benign | 0.1131 | benign | -0.174 | Destabilizing | 0.759 | D | 0.359 | neutral | None | None | None | None | N |
| T/W | 0.6549 | likely_pathogenic | 0.6383 | pathogenic | -0.788 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| T/Y | 0.3968 | ambiguous | 0.3734 | ambiguous | -0.521 | Destabilizing | 0.997 | D | 0.509 | 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.