Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3168 | 9727;9728;9729 | chr2:178766582;178766581;178766580 | chr2:179631309;179631308;179631307 |
| N2AB | 3168 | 9727;9728;9729 | chr2:178766582;178766581;178766580 | chr2:179631309;179631308;179631307 |
| N2A | 3168 | 9727;9728;9729 | chr2:178766582;178766581;178766580 | chr2:179631309;179631308;179631307 |
| N2B | 3122 | 9589;9590;9591 | chr2:178766582;178766581;178766580 | chr2:179631309;179631308;179631307 |
| Novex-1 | 3122 | 9589;9590;9591 | chr2:178766582;178766581;178766580 | chr2:179631309;179631308;179631307 |
| Novex-2 | 3122 | 9589;9590;9591 | chr2:178766582;178766581;178766580 | chr2:179631309;179631308;179631307 |
| Novex-3 | 3168 | 9727;9728;9729 | chr2:178766582;178766581;178766580 | chr2:179631309;179631308;179631307 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | 1.0 | N | 0.893 | 0.481 | 0.490560587058 | gnomAD-4.0.0 | 3.18147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71324E-06 | 0 | 0 |
| F/V | rs746038856  |
-2.278 | 1.0 | N | 0.814 | 0.43 | 0.516437024119 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 8.68E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/V | rs746038856 |
-2.278 | 1.0 | N | 0.814 | 0.43 | 0.516437024119 | gnomAD-4.0.0 | 3.18149E-06 | None | None | None | None | N | None | 0 | 4.57373E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9952 | likely_pathogenic | 0.989 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| F/C | 0.9755 | likely_pathogenic | 0.918 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.892 | deleterious | N | 0.307648783 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -3.003 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.761 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/G | 0.9975 | likely_pathogenic | 0.9948 | pathogenic | -2.727 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| F/H | 0.9975 | likely_pathogenic | 0.9956 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/I | 0.9671 | likely_pathogenic | 0.9479 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.321993863 | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| F/L | 0.9976 | likely_pathogenic | 0.996 | pathogenic | -0.821 | Destabilizing | 0.999 | D | 0.645 | neutral | N | 0.335083503 | None | None | N |
| F/M | 0.9677 | likely_pathogenic | 0.9509 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/N | 0.9988 | likely_pathogenic | 0.9974 | pathogenic | -2.146 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| F/S | 0.9979 | likely_pathogenic | 0.9949 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.346348664 | None | None | N |
| F/T | 0.9972 | likely_pathogenic | 0.9937 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/V | 0.9608 | likely_pathogenic | 0.9261 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.339913558 | None | None | N |
| F/W | 0.9692 | likely_pathogenic | 0.9538 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| F/Y | 0.7975 | likely_pathogenic | 0.7116 | pathogenic | -0.515 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.346752956 | 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.