Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16726 | 50401;50402;50403 | chr2:178612349;178612348;178612347 | chr2:179477076;179477075;179477074 |
| N2AB | 15085 | 45478;45479;45480 | chr2:178612349;178612348;178612347 | chr2:179477076;179477075;179477074 |
| N2A | 14158 | 42697;42698;42699 | chr2:178612349;178612348;178612347 | chr2:179477076;179477075;179477074 |
| N2B | 7661 | 23206;23207;23208 | chr2:178612349;178612348;178612347 | chr2:179477076;179477075;179477074 |
| Novex-1 | 7786 | 23581;23582;23583 | chr2:178612349;178612348;178612347 | chr2:179477076;179477075;179477074 |
| Novex-2 | 7853 | 23782;23783;23784 | chr2:178612349;178612348;178612347 | chr2:179477076;179477075;179477074 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | N | 0.719 | 0.381 | 0.310147130316 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7847 | likely_pathogenic | 0.7191 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| A/D | 0.9964 | likely_pathogenic | 0.9956 | pathogenic | -2.619 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.63957044 | None | None | N |
| A/E | 0.9857 | likely_pathogenic | 0.981 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/F | 0.9428 | likely_pathogenic | 0.9126 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/G | 0.5325 | ambiguous | 0.5125 | ambiguous | -2.17 | Highly Destabilizing | 1.0 | D | 0.644 | neutral | D | 0.576038132 | None | None | N |
| A/H | 0.9775 | likely_pathogenic | 0.9652 | pathogenic | -2.322 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/I | 0.962 | likely_pathogenic | 0.9405 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/K | 0.9822 | likely_pathogenic | 0.975 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/L | 0.8564 | likely_pathogenic | 0.7943 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| A/M | 0.8854 | likely_pathogenic | 0.8242 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| A/N | 0.9807 | likely_pathogenic | 0.9726 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/P | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.640887409 | None | None | N |
| A/Q | 0.9318 | likely_pathogenic | 0.8949 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/R | 0.936 | likely_pathogenic | 0.8989 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/S | 0.3959 | ambiguous | 0.3566 | ambiguous | -2.045 | Highly Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.442974148 | None | None | N |
| A/T | 0.7966 | likely_pathogenic | 0.7397 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.470581092 | None | None | N |
| A/V | 0.8457 | likely_pathogenic | 0.8021 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | N | 0.480588138 | None | None | N |
| A/W | 0.9944 | likely_pathogenic | 0.9891 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/Y | 0.9759 | likely_pathogenic | 0.9601 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.79 | 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.