Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25735 | 77428;77429;77430 | chr2:178568929;178568928;178568927 | chr2:179433656;179433655;179433654 |
| N2AB | 24094 | 72505;72506;72507 | chr2:178568929;178568928;178568927 | chr2:179433656;179433655;179433654 |
| N2A | 23167 | 69724;69725;69726 | chr2:178568929;178568928;178568927 | chr2:179433656;179433655;179433654 |
| N2B | 16670 | 50233;50234;50235 | chr2:178568929;178568928;178568927 | chr2:179433656;179433655;179433654 |
| Novex-1 | 16795 | 50608;50609;50610 | chr2:178568929;178568928;178568927 | chr2:179433656;179433655;179433654 |
| Novex-2 | 16862 | 50809;50810;50811 | chr2:178568929;178568928;178568927 | chr2:179433656;179433655;179433654 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs369532567  |
-0.875 | 1.0 | D | 0.707 | 0.525 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/M | rs369532567 |
-0.875 | 1.0 | D | 0.707 | 0.525 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs369532567 |
-0.875 | 1.0 | D | 0.707 | 0.525 | None | gnomAD-4.0.0 | 2.56345E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78822E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8782 | likely_pathogenic | 0.8411 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.595 | neutral | D | 0.559746099 | None | None | N |
| V/C | 0.982 | likely_pathogenic | 0.9797 | pathogenic | -1.903 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| V/D | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.358 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/E | 0.997 | likely_pathogenic | 0.9962 | pathogenic | -3.063 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.560506567 | None | None | N |
| V/F | 0.9476 | likely_pathogenic | 0.9235 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/G | 0.9776 | likely_pathogenic | 0.9716 | pathogenic | -2.995 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.560506567 | None | None | N |
| V/H | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/I | 0.0878 | likely_benign | 0.0816 | benign | -0.669 | Destabilizing | 0.999 | D | 0.542 | neutral | None | None | None | None | N |
| V/K | 0.9979 | likely_pathogenic | 0.9972 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/L | 0.5802 | likely_pathogenic | 0.536 | ambiguous | -0.669 | Destabilizing | 0.995 | D | 0.599 | neutral | N | 0.482130703 | None | None | N |
| V/M | 0.7641 | likely_pathogenic | 0.7057 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.533501543 | None | None | N |
| V/N | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -2.606 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/P | 0.9972 | likely_pathogenic | 0.9961 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/Q | 0.9968 | likely_pathogenic | 0.9959 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/R | 0.9958 | likely_pathogenic | 0.9945 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| V/S | 0.9864 | likely_pathogenic | 0.9821 | pathogenic | -3.164 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/T | 0.8813 | likely_pathogenic | 0.8592 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| V/W | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -1.921 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/Y | 0.9975 | likely_pathogenic | 0.996 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.783 | 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.