Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14863 | 44812;44813;44814 | chr2:178624693;178624692;178624691 | chr2:179489420;179489419;179489418 |
| N2AB | 13222 | 39889;39890;39891 | chr2:178624693;178624692;178624691 | chr2:179489420;179489419;179489418 |
| N2A | 12295 | 37108;37109;37110 | chr2:178624693;178624692;178624691 | chr2:179489420;179489419;179489418 |
| N2B | 5798 | 17617;17618;17619 | chr2:178624693;178624692;178624691 | chr2:179489420;179489419;179489418 |
| Novex-1 | 5923 | 17992;17993;17994 | chr2:178624693;178624692;178624691 | chr2:179489420;179489419;179489418 |
| Novex-2 | 5990 | 18193;18194;18195 | chr2:178624693;178624692;178624691 | chr2:179489420;179489419;179489418 |
| 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/K | None | None | 0.967 | N | 0.583 | 0.443 | 0.415564226483 | gnomAD-4.0.0 | 2.73913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7001E-06 | 1.1599E-05 | 0 |
| T/M | rs759406486  |
0.085 | 1.0 | D | 0.602 | 0.567 | None | gnomAD-2.1.1 | 5.02E-05 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 2.6154E-04 | None | 0 | 3.93E-05 | 0 |
| T/M | rs759406486 |
0.085 | 1.0 | D | 0.602 | 0.567 | None | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.32509E-04 | 0 | 0 |
| T/M | rs759406486 |
0.085 | 1.0 | D | 0.602 | 0.567 | None | gnomAD-4.0.0 | 4.9002E-05 | None | None | None | None | N | None | 4.01198E-05 | 0 | None | 0 | 2.23824E-05 | None | 0 | 0 | 4.1561E-05 | 2.63626E-04 | 3.20646E-05 |
| T/R | rs759406486 |
0.133 | 0.99 | N | 0.635 | 0.471 | 0.500363902356 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| T/R | rs759406486 |
0.133 | 0.99 | N | 0.635 | 0.471 | 0.500363902356 | gnomAD-4.0.0 | 9.58697E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.17004E-05 | 0 | 1.65876E-05 |
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 | 0.1537 | likely_benign | 0.1424 | benign | -0.376 | Destabilizing | 0.919 | D | 0.455 | neutral | N | 0.505384125 | None | None | N |
| T/C | 0.6995 | likely_pathogenic | 0.6947 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | N |
| T/D | 0.5058 | ambiguous | 0.4628 | ambiguous | 0.137 | Stabilizing | 0.991 | D | 0.603 | neutral | None | None | None | None | N |
| T/E | 0.3628 | ambiguous | 0.3229 | benign | 0.082 | Stabilizing | 0.938 | D | 0.557 | neutral | None | None | None | None | N |
| T/F | 0.4351 | ambiguous | 0.3859 | ambiguous | -0.771 | Destabilizing | 0.998 | D | 0.633 | neutral | None | None | None | None | N |
| T/G | 0.552 | ambiguous | 0.5233 | ambiguous | -0.537 | Destabilizing | 0.991 | D | 0.566 | neutral | None | None | None | None | N |
| T/H | 0.428 | ambiguous | 0.3879 | ambiguous | -0.786 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| T/I | 0.2389 | likely_benign | 0.2135 | benign | -0.068 | Destabilizing | 0.995 | D | 0.64 | neutral | None | None | None | None | N |
| T/K | 0.3381 | likely_benign | 0.291 | benign | -0.445 | Destabilizing | 0.967 | D | 0.583 | neutral | N | 0.505433626 | None | None | N |
| T/L | 0.1787 | likely_benign | 0.1647 | benign | -0.068 | Destabilizing | 0.968 | D | 0.555 | neutral | None | None | None | None | N |
| T/M | 0.1172 | likely_benign | 0.1025 | benign | -0.037 | Destabilizing | 1.0 | D | 0.602 | neutral | D | 0.624342647 | None | None | N |
| T/N | 0.1822 | likely_benign | 0.1631 | benign | -0.313 | Destabilizing | 0.991 | D | 0.609 | neutral | None | None | None | None | N |
| T/P | 0.4166 | ambiguous | 0.3606 | ambiguous | -0.141 | Destabilizing | 0.994 | D | 0.64 | neutral | D | 0.676370556 | None | None | N |
| T/Q | 0.3314 | likely_benign | 0.304 | benign | -0.494 | Destabilizing | 0.484 | N | 0.335 | neutral | None | None | None | None | N |
| T/R | 0.2859 | likely_benign | 0.2344 | benign | -0.173 | Destabilizing | 0.99 | D | 0.635 | neutral | N | 0.512665342 | None | None | N |
| T/S | 0.1989 | likely_benign | 0.1853 | benign | -0.519 | Destabilizing | 0.958 | D | 0.439 | neutral | N | 0.511533029 | None | None | N |
| T/V | 0.1989 | likely_benign | 0.1817 | benign | -0.141 | Destabilizing | 0.968 | D | 0.513 | neutral | None | None | None | None | N |
| T/W | 0.7709 | likely_pathogenic | 0.7137 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| T/Y | 0.4505 | ambiguous | 0.4034 | ambiguous | -0.499 | Destabilizing | 0.998 | D | 0.633 | 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.