Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25785 | 77578;77579;77580 | chr2:178568779;178568778;178568777 | chr2:179433506;179433505;179433504 |
| N2AB | 24144 | 72655;72656;72657 | chr2:178568779;178568778;178568777 | chr2:179433506;179433505;179433504 |
| N2A | 23217 | 69874;69875;69876 | chr2:178568779;178568778;178568777 | chr2:179433506;179433505;179433504 |
| N2B | 16720 | 50383;50384;50385 | chr2:178568779;178568778;178568777 | chr2:179433506;179433505;179433504 |
| Novex-1 | 16845 | 50758;50759;50760 | chr2:178568779;178568778;178568777 | chr2:179433506;179433505;179433504 |
| Novex-2 | 16912 | 50959;50960;50961 | chr2:178568779;178568778;178568777 | chr2:179433506;179433505;179433504 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs1385070612  |
-1.285 | 1.0 | N | 0.87 | 0.471 | 0.723938039073 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| L/P | rs1385070612 |
-1.285 | 1.0 | N | 0.87 | 0.471 | 0.723938039073 | gnomAD-4.0.0 | 5.47675E-06 | None | None | None | None | N | None | 0 | 2.23804E-05 | None | 0 | 0 | None | 0 | 0 | 6.29856E-06 | 0 | 0 |
| L/R | None | None | 0.999 | N | 0.841 | 0.498 | 0.768798656172 | gnomAD-4.0.0 | 3.42297E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59917E-06 | 1.1606E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.6674 | likely_pathogenic | 0.6677 | pathogenic | -1.62 | Destabilizing | 0.995 | D | 0.757 | deleterious | None | None | None | None | N |
| L/C | 0.8968 | likely_pathogenic | 0.8811 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| L/D | 0.9878 | likely_pathogenic | 0.989 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| L/E | 0.9443 | likely_pathogenic | 0.9485 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| L/F | 0.5705 | likely_pathogenic | 0.5591 | ambiguous | -0.786 | Destabilizing | 0.995 | D | 0.809 | deleterious | N | 0.476618569 | None | None | N |
| L/G | 0.932 | likely_pathogenic | 0.934 | pathogenic | -2.079 | Highly Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| L/H | 0.8912 | likely_pathogenic | 0.8957 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.495483293 | None | None | N |
| L/I | 0.2053 | likely_benign | 0.2062 | benign | -0.365 | Destabilizing | 0.03 | N | 0.347 | neutral | N | 0.466393756 | None | None | N |
| L/K | 0.917 | likely_pathogenic | 0.9202 | pathogenic | -1.173 | Destabilizing | 0.976 | D | 0.813 | deleterious | None | None | None | None | N |
| L/M | 0.2453 | likely_benign | 0.2407 | benign | -0.409 | Destabilizing | 0.988 | D | 0.761 | deleterious | None | None | None | None | N |
| L/N | 0.9272 | likely_pathogenic | 0.9345 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| L/P | 0.8486 | likely_pathogenic | 0.8731 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.87 | deleterious | N | 0.47658932 | None | None | N |
| L/Q | 0.82 | likely_pathogenic | 0.8271 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| L/R | 0.8744 | likely_pathogenic | 0.8822 | pathogenic | -0.906 | Destabilizing | 0.999 | D | 0.841 | deleterious | N | 0.494722824 | None | None | N |
| L/S | 0.8406 | likely_pathogenic | 0.8508 | pathogenic | -2.023 | Highly Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| L/T | 0.5603 | ambiguous | 0.5879 | pathogenic | -1.731 | Destabilizing | 0.995 | D | 0.745 | deleterious | None | None | None | None | N |
| L/V | 0.2052 | likely_benign | 0.2005 | benign | -0.756 | Destabilizing | 0.286 | N | 0.74 | deleterious | N | 0.476744036 | None | None | N |
| L/W | 0.8829 | likely_pathogenic | 0.8856 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| L/Y | 0.922 | likely_pathogenic | 0.9174 | pathogenic | -0.722 | Destabilizing | 0.985 | D | 0.781 | 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.