Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15463 | 46612;46613;46614 | chr2:178620030;178620029;178620028 | chr2:179484757;179484756;179484755 |
| N2AB | 13822 | 41689;41690;41691 | chr2:178620030;178620029;178620028 | chr2:179484757;179484756;179484755 |
| N2A | 12895 | 38908;38909;38910 | chr2:178620030;178620029;178620028 | chr2:179484757;179484756;179484755 |
| N2B | 6398 | 19417;19418;19419 | chr2:178620030;178620029;178620028 | chr2:179484757;179484756;179484755 |
| Novex-1 | 6523 | 19792;19793;19794 | chr2:178620030;178620029;178620028 | chr2:179484757;179484756;179484755 |
| Novex-2 | 6590 | 19993;19994;19995 | chr2:178620030;178620029;178620028 | chr2:179484757;179484756;179484755 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs200042932  |
-0.506 | 1.0 | N | 0.898 | 0.496 | 0.730639839714 | gnomAD-2.1.1 | 2.98514E-04 | None | None | None | None | N | None | 3.31565E-04 | 5.69E-05 | None | 1.94477E-04 | 5.2E-05 | None | 3.27E-05 | None | 1.60295E-04 | 5.05338E-04 | 1.41363E-04 |
| G/R | rs200042932 |
-0.506 | 1.0 | N | 0.898 | 0.496 | 0.730639839714 | gnomAD-3.1.2 | 2.63584E-04 | None | None | None | None | N | None | 3.14374E-04 | 0 | 0 | 0 | 1.95008E-04 | None | 9.43E-05 | 0 | 3.38913E-04 | 4.14766E-04 | 0 |
| G/R | rs200042932 |
-0.506 | 1.0 | N | 0.898 | 0.496 | 0.730639839714 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| G/R | rs200042932 |
-0.506 | 1.0 | N | 0.898 | 0.496 | 0.730639839714 | gnomAD-4.0.0 | 2.73992E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.6007E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1364 | likely_benign | 0.1567 | benign | -0.166 | Destabilizing | 1.0 | D | 0.644 | neutral | N | 0.479502863 | None | None | N |
| G/C | 0.401 | ambiguous | 0.4501 | ambiguous | -0.199 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/D | 0.828 | likely_pathogenic | 0.8342 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/E | 0.6748 | likely_pathogenic | 0.6935 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.91 | deleterious | N | 0.452219691 | None | None | N |
| G/F | 0.7805 | likely_pathogenic | 0.8264 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/H | 0.8075 | likely_pathogenic | 0.8208 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/I | 0.3837 | ambiguous | 0.4822 | ambiguous | 0.976 | Stabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/K | 0.8665 | likely_pathogenic | 0.8725 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/L | 0.6498 | likely_pathogenic | 0.7186 | pathogenic | 0.976 | Stabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| G/M | 0.6231 | likely_pathogenic | 0.6903 | pathogenic | 0.703 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/N | 0.7345 | likely_pathogenic | 0.78 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/P | 0.995 | likely_pathogenic | 0.9964 | pathogenic | 0.642 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/Q | 0.7004 | likely_pathogenic | 0.7176 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/R | 0.744 | likely_pathogenic | 0.743 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.898 | deleterious | N | 0.463188494 | None | None | N |
| G/S | 0.1579 | likely_benign | 0.1814 | benign | -0.965 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/T | 0.2711 | likely_benign | 0.3212 | benign | -0.654 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| G/V | 0.288 | likely_benign | 0.3647 | ambiguous | 0.642 | Stabilizing | 1.0 | D | 0.902 | deleterious | N | 0.44504636 | None | None | N |
| G/W | 0.7824 | likely_pathogenic | 0.795 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.54360216 | None | None | N |
| G/Y | 0.7595 | likely_pathogenic | 0.805 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.879 | deleterious | 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.