Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16484 | 49675;49676;49677 | chr2:178613833;178613832;178613831 | chr2:179478560;179478559;179478558 |
| N2AB | 14843 | 44752;44753;44754 | chr2:178613833;178613832;178613831 | chr2:179478560;179478559;179478558 |
| N2A | 13916 | 41971;41972;41973 | chr2:178613833;178613832;178613831 | chr2:179478560;179478559;179478558 |
| N2B | 7419 | 22480;22481;22482 | chr2:178613833;178613832;178613831 | chr2:179478560;179478559;179478558 |
| Novex-1 | 7544 | 22855;22856;22857 | chr2:178613833;178613832;178613831 | chr2:179478560;179478559;179478558 |
| Novex-2 | 7611 | 23056;23057;23058 | chr2:178613833;178613832;178613831 | chr2:179478560;179478559;179478558 |
| 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/A | rs963478586  |
None | 0.984 | D | 0.557 | 0.484 | 0.364730456448 | 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 |
| G/A | rs963478586 |
None | 0.984 | D | 0.557 | 0.484 | 0.364730456448 | gnomAD-4.0.0 | 6.58363E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4721E-05 | 0 | 0 |
| G/R | rs878966291 |
None | 0.513 | D | 0.717 | 0.456 | 0.588683980515 | gnomAD-4.0.0 | 6.84676E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99956E-07 | 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 | 0.7411 | likely_pathogenic | 0.7124 | pathogenic | -0.717 | Destabilizing | 0.984 | D | 0.557 | neutral | D | 0.588771726 | None | None | N |
| G/C | 0.9077 | likely_pathogenic | 0.8829 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/D | 0.9845 | likely_pathogenic | 0.9827 | pathogenic | -1.88 | Destabilizing | 0.997 | D | 0.858 | deleterious | None | None | None | None | N |
| G/E | 0.9905 | likely_pathogenic | 0.991 | pathogenic | -1.777 | Destabilizing | 0.996 | D | 0.889 | deleterious | D | 0.539512593 | None | None | N |
| G/F | 0.9946 | likely_pathogenic | 0.9933 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/H | 0.9858 | likely_pathogenic | 0.9808 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/I | 0.9951 | likely_pathogenic | 0.9945 | pathogenic | 0.137 | Stabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/K | 0.9954 | likely_pathogenic | 0.9953 | pathogenic | -1.087 | Destabilizing | 0.993 | D | 0.844 | deleterious | None | None | None | None | N |
| G/L | 0.9931 | likely_pathogenic | 0.9919 | pathogenic | 0.137 | Stabilizing | 0.997 | D | 0.885 | deleterious | None | None | None | None | N |
| G/M | 0.9945 | likely_pathogenic | 0.9931 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/N | 0.9667 | likely_pathogenic | 0.9443 | pathogenic | -1.113 | Destabilizing | 0.997 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.105 | Destabilizing | 0.999 | D | 0.895 | deleterious | None | None | None | None | N |
| G/Q | 0.9843 | likely_pathogenic | 0.9815 | pathogenic | -1.054 | Destabilizing | 0.997 | D | 0.896 | deleterious | None | None | None | None | N |
| G/R | 0.9787 | likely_pathogenic | 0.9789 | pathogenic | -1.096 | Destabilizing | 0.513 | D | 0.717 | prob.delet. | D | 0.563779877 | None | None | N |
| G/S | 0.6908 | likely_pathogenic | 0.6351 | pathogenic | -1.401 | Destabilizing | 0.997 | D | 0.643 | neutral | None | None | None | None | N |
| G/T | 0.9649 | likely_pathogenic | 0.9585 | pathogenic | -1.209 | Destabilizing | 0.997 | D | 0.893 | deleterious | None | None | None | None | N |
| G/V | 0.9849 | likely_pathogenic | 0.984 | pathogenic | -0.105 | Destabilizing | 0.998 | D | 0.894 | deleterious | D | 0.699075058 | None | None | N |
| G/W | 0.986 | likely_pathogenic | 0.9836 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/Y | 0.987 | likely_pathogenic | 0.9822 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.887 | 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.