Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30175 | 90748;90749;90750 | chr2:178552377;178552376;178552375 | chr2:179417104;179417103;179417102 |
| N2AB | 28534 | 85825;85826;85827 | chr2:178552377;178552376;178552375 | chr2:179417104;179417103;179417102 |
| N2A | 27607 | 83044;83045;83046 | chr2:178552377;178552376;178552375 | chr2:179417104;179417103;179417102 |
| N2B | 21110 | 63553;63554;63555 | chr2:178552377;178552376;178552375 | chr2:179417104;179417103;179417102 |
| Novex-1 | 21235 | 63928;63929;63930 | chr2:178552377;178552376;178552375 | chr2:179417104;179417103;179417102 |
| Novex-2 | 21302 | 64129;64130;64131 | chr2:178552377;178552376;178552375 | chr2:179417104;179417103;179417102 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs201060254  |
-0.288 | 0.939 | N | 0.375 | 0.205 | 0.137902524267 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.67E-05 | None | 0 | None | 0 | 3.74E-05 | 0 |
| S/G | rs201060254 |
-0.288 | 0.939 | N | 0.375 | 0.205 | 0.137902524267 | gnomAD-4.0.0 | 1.15489E-05 | None | None | None | None | N | None | 0 | 2.37462E-05 | None | 0 | 2.80002E-05 | None | 0 | 0 | 1.18523E-05 | 0 | 3.12149E-05 |
| S/R | rs1220880668 |
0.021 | 0.991 | N | 0.469 | 0.394 | 0.16115917748 | gnomAD-2.1.1 | 7.58E-06 | None | None | None | None | N | None | 4.17E-05 | 2.98E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs1220880668 |
0.021 | 0.991 | N | 0.469 | 0.394 | 0.16115917748 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1220880668 |
0.021 | 0.991 | N | 0.469 | 0.394 | 0.16115917748 | gnomAD-4.0.0 | 2.6377E-06 | None | None | None | None | N | None | 1.70928E-05 | 1.74392E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | None | None | 0.17 | N | 0.273 | 0.069 | 0.0716867268079 | gnomAD-4.0.0 | 1.64977E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.96238E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2027 | likely_benign | 0.2019 | benign | -0.403 | Destabilizing | 0.807 | D | 0.357 | neutral | None | None | None | None | N |
| S/C | 0.2472 | likely_benign | 0.2404 | benign | -0.4 | Destabilizing | 0.999 | D | 0.505 | neutral | N | 0.490653765 | None | None | N |
| S/D | 0.4491 | ambiguous | 0.4502 | ambiguous | 0.369 | Stabilizing | 0.953 | D | 0.411 | neutral | None | None | None | None | N |
| S/E | 0.7888 | likely_pathogenic | 0.8027 | pathogenic | 0.316 | Stabilizing | 0.953 | D | 0.417 | neutral | None | None | None | None | N |
| S/F | 0.6937 | likely_pathogenic | 0.6575 | pathogenic | -0.834 | Destabilizing | 0.993 | D | 0.581 | neutral | None | None | None | None | N |
| S/G | 0.1208 | likely_benign | 0.1119 | benign | -0.566 | Destabilizing | 0.939 | D | 0.375 | neutral | N | 0.493091994 | None | None | N |
| S/H | 0.6892 | likely_pathogenic | 0.6755 | pathogenic | -0.926 | Destabilizing | 0.999 | D | 0.479 | neutral | None | None | None | None | N |
| S/I | 0.6417 | likely_pathogenic | 0.638 | pathogenic | -0.099 | Destabilizing | 0.982 | D | 0.561 | neutral | N | 0.478879386 | None | None | N |
| S/K | 0.8983 | likely_pathogenic | 0.8904 | pathogenic | -0.464 | Destabilizing | 0.953 | D | 0.409 | neutral | None | None | None | None | N |
| S/L | 0.2369 | likely_benign | 0.2292 | benign | -0.099 | Destabilizing | 0.91 | D | 0.455 | neutral | None | None | None | None | N |
| S/M | 0.3523 | ambiguous | 0.348 | ambiguous | -0.12 | Destabilizing | 0.999 | D | 0.479 | neutral | None | None | None | None | N |
| S/N | 0.1652 | likely_benign | 0.1607 | benign | -0.307 | Destabilizing | 0.939 | D | 0.439 | neutral | N | 0.500212754 | None | None | N |
| S/P | 0.8745 | likely_pathogenic | 0.8586 | pathogenic | -0.169 | Destabilizing | 0.993 | D | 0.476 | neutral | None | None | None | None | N |
| S/Q | 0.8042 | likely_pathogenic | 0.8073 | pathogenic | -0.444 | Destabilizing | 0.993 | D | 0.456 | neutral | None | None | None | None | N |
| S/R | 0.9032 | likely_pathogenic | 0.8934 | pathogenic | -0.297 | Destabilizing | 0.991 | D | 0.469 | neutral | N | 0.510488463 | None | None | N |
| S/T | 0.0795 | likely_benign | 0.0791 | benign | -0.386 | Destabilizing | 0.17 | N | 0.273 | neutral | N | 0.485648733 | None | None | N |
| S/V | 0.5452 | ambiguous | 0.5492 | ambiguous | -0.169 | Destabilizing | 0.973 | D | 0.509 | neutral | None | None | None | None | N |
| S/W | 0.7641 | likely_pathogenic | 0.7389 | pathogenic | -0.866 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| S/Y | 0.5337 | ambiguous | 0.5209 | ambiguous | -0.572 | Destabilizing | 0.998 | D | 0.573 | 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.