Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5997 | 18214;18215;18216 | chr2:178730544;178730543;178730542 | chr2:179595271;179595270;179595269 |
| N2AB | 5680 | 17263;17264;17265 | chr2:178730544;178730543;178730542 | chr2:179595271;179595270;179595269 |
| N2A | 4753 | 14482;14483;14484 | chr2:178730544;178730543;178730542 | chr2:179595271;179595270;179595269 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs72648946  |
-0.225 | 0.997 | N | 0.703 | 0.441 | None | gnomAD-2.1.1 | 1.80344E-03 | None | None | None | None | I | None | 1.93468E-02 | 7.64007E-04 | None | 0 | 0 | None | 0 | None | 0 | 5.47E-05 | 4.22178E-04 |
| A/T | rs72648946 |
-0.225 | 0.997 | N | 0.703 | 0.441 | None | gnomAD-3.1.2 | 5.2981E-03 | None | None | None | None | I | None | 1.86052E-02 | 1.4413E-03 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 3.34928E-03 |
| A/T | rs72648946 |
-0.225 | 0.997 | N | 0.703 | 0.441 | None | 1000 genomes | 3.79393E-03 | None | None | None | None | I | None | 1.44E-02 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | rs72648946 |
-0.225 | 0.997 | N | 0.703 | 0.441 | None | gnomAD-4.0.0 | 9.95458E-04 | None | None | None | None | I | None | 1.9198E-02 | 1.06688E-03 | None | 0 | 0 | None | 0 | 1.65289E-04 | 3.05231E-05 | 0 | 1.04077E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9309 | likely_pathogenic | 0.9329 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| A/D | 0.948 | likely_pathogenic | 0.9582 | pathogenic | -0.624 | Destabilizing | 0.995 | D | 0.728 | prob.delet. | None | None | None | None | I |
| A/E | 0.9097 | likely_pathogenic | 0.93 | pathogenic | -0.773 | Destabilizing | 0.997 | D | 0.708 | prob.delet. | N | 0.509992464 | None | None | I |
| A/F | 0.7064 | likely_pathogenic | 0.73 | pathogenic | -0.943 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | I |
| A/G | 0.4941 | ambiguous | 0.4956 | ambiguous | -0.279 | Destabilizing | 0.117 | N | 0.481 | neutral | N | 0.513827125 | None | None | I |
| A/H | 0.9076 | likely_pathogenic | 0.9303 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| A/I | 0.8785 | likely_pathogenic | 0.8633 | pathogenic | -0.452 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| A/K | 0.9685 | likely_pathogenic | 0.9771 | pathogenic | -0.626 | Destabilizing | 0.995 | D | 0.709 | prob.delet. | None | None | None | None | I |
| A/L | 0.7728 | likely_pathogenic | 0.7281 | pathogenic | -0.452 | Destabilizing | 0.998 | D | 0.657 | neutral | None | None | None | None | I |
| A/M | 0.7979 | likely_pathogenic | 0.7876 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| A/N | 0.9047 | likely_pathogenic | 0.9103 | pathogenic | -0.338 | Destabilizing | 0.995 | D | 0.73 | prob.delet. | None | None | None | None | I |
| A/P | 0.9817 | likely_pathogenic | 0.9843 | pathogenic | -0.368 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | D | 0.543998928 | None | None | I |
| A/Q | 0.901 | likely_pathogenic | 0.9237 | pathogenic | -0.604 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | I |
| A/R | 0.9105 | likely_pathogenic | 0.9318 | pathogenic | -0.166 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | I |
| A/S | 0.3702 | ambiguous | 0.4061 | ambiguous | -0.517 | Destabilizing | 0.977 | D | 0.603 | neutral | N | 0.506243028 | None | None | I |
| A/T | 0.716 | likely_pathogenic | 0.6215 | pathogenic | -0.595 | Destabilizing | 0.997 | D | 0.703 | prob.neutral | N | 0.51585136 | None | None | I |
| A/V | 0.5957 | likely_pathogenic | 0.6177 | pathogenic | -0.368 | Destabilizing | 0.989 | D | 0.68 | prob.neutral | N | 0.503120639 | None | None | I |
| A/W | 0.9607 | likely_pathogenic | 0.9641 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| A/Y | 0.8405 | likely_pathogenic | 0.8626 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.741 | deleterious | 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.