Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25588 | 76987;76988;76989 | chr2:178569370;178569369;178569368 | chr2:179434097;179434096;179434095 |
| N2AB | 23947 | 72064;72065;72066 | chr2:178569370;178569369;178569368 | chr2:179434097;179434096;179434095 |
| N2A | 23020 | 69283;69284;69285 | chr2:178569370;178569369;178569368 | chr2:179434097;179434096;179434095 |
| N2B | 16523 | 49792;49793;49794 | chr2:178569370;178569369;178569368 | chr2:179434097;179434096;179434095 |
| Novex-1 | 16648 | 50167;50168;50169 | chr2:178569370;178569369;178569368 | chr2:179434097;179434096;179434095 |
| Novex-2 | 16715 | 50368;50369;50370 | chr2:178569370;178569369;178569368 | chr2:179434097;179434096;179434095 |
| 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 | rs1275050402  |
0.09 | 0.957 | D | 0.783 | 0.778 | 0.817325593767 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/R | rs1275050402 |
0.09 | 0.957 | D | 0.783 | 0.778 | 0.817325593767 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1275050402 |
0.09 | 0.957 | D | 0.783 | 0.778 | 0.817325593767 | gnomAD-4.0.0 | 2.5636E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78863E-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 | 0.5766 | likely_pathogenic | 0.5548 | ambiguous | -0.137 | Destabilizing | 0.865 | D | 0.577 | neutral | D | 0.601300662 | None | None | I |
| G/C | 0.8 | likely_pathogenic | 0.8001 | pathogenic | -0.765 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | I |
| G/D | 0.8956 | likely_pathogenic | 0.8877 | pathogenic | -0.546 | Destabilizing | 0.968 | D | 0.792 | deleterious | None | None | None | None | I |
| G/E | 0.917 | likely_pathogenic | 0.9093 | pathogenic | -0.717 | Destabilizing | 0.085 | N | 0.439 | neutral | D | 0.560326573 | None | None | I |
| G/F | 0.9724 | likely_pathogenic | 0.9734 | pathogenic | -1.032 | Destabilizing | 0.999 | D | 0.818 | deleterious | None | None | None | None | I |
| G/H | 0.9463 | likely_pathogenic | 0.948 | pathogenic | -0.38 | Destabilizing | 0.998 | D | 0.825 | deleterious | None | None | None | None | I |
| G/I | 0.9601 | likely_pathogenic | 0.9611 | pathogenic | -0.412 | Destabilizing | 0.998 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9298 | likely_pathogenic | 0.9331 | pathogenic | -0.474 | Destabilizing | 0.968 | D | 0.798 | deleterious | None | None | None | None | I |
| G/L | 0.9391 | likely_pathogenic | 0.9409 | pathogenic | -0.412 | Destabilizing | 0.983 | D | 0.775 | deleterious | None | None | None | None | I |
| G/M | 0.9529 | likely_pathogenic | 0.9557 | pathogenic | -0.38 | Destabilizing | 0.998 | D | 0.804 | deleterious | None | None | None | None | I |
| G/N | 0.8672 | likely_pathogenic | 0.8682 | pathogenic | -0.194 | Destabilizing | 0.983 | D | 0.763 | deleterious | None | None | None | None | I |
| G/P | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -0.294 | Destabilizing | 0.992 | D | 0.795 | deleterious | None | None | None | None | I |
| G/Q | 0.8857 | likely_pathogenic | 0.8868 | pathogenic | -0.495 | Destabilizing | 0.547 | D | 0.493 | neutral | None | None | None | None | I |
| G/R | 0.8665 | likely_pathogenic | 0.866 | pathogenic | -0.086 | Destabilizing | 0.957 | D | 0.783 | deleterious | D | 0.638880975 | None | None | I |
| G/S | 0.4473 | ambiguous | 0.4408 | ambiguous | -0.285 | Destabilizing | 0.895 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/T | 0.8383 | likely_pathogenic | 0.8392 | pathogenic | -0.397 | Destabilizing | 0.983 | D | 0.788 | deleterious | None | None | None | None | I |
| G/V | 0.9215 | likely_pathogenic | 0.9207 | pathogenic | -0.294 | Destabilizing | 0.978 | D | 0.777 | deleterious | D | 0.639486388 | None | None | I |
| G/W | 0.9663 | likely_pathogenic | 0.9676 | pathogenic | -1.157 | Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | I |
| G/Y | 0.9614 | likely_pathogenic | 0.9617 | pathogenic | -0.803 | Destabilizing | 0.999 | D | 0.817 | 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.