Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20405 | 61438;61439;61440 | chr2:178590512;178590511;178590510 | chr2:179455239;179455238;179455237 |
| N2AB | 18764 | 56515;56516;56517 | chr2:178590512;178590511;178590510 | chr2:179455239;179455238;179455237 |
| N2A | 17837 | 53734;53735;53736 | chr2:178590512;178590511;178590510 | chr2:179455239;179455238;179455237 |
| N2B | 11340 | 34243;34244;34245 | chr2:178590512;178590511;178590510 | chr2:179455239;179455238;179455237 |
| Novex-1 | 11465 | 34618;34619;34620 | chr2:178590512;178590511;178590510 | chr2:179455239;179455238;179455237 |
| Novex-2 | 11532 | 34819;34820;34821 | chr2:178590512;178590511;178590510 | chr2:179455239;179455238;179455237 |
| 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/E | rs749894610  |
-0.848 | 1.0 | N | 0.893 | 0.46 | 0.494165489436 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30856E-04 | None | 0 | 0 | 0 |
| G/E | rs749894610 |
-0.848 | 1.0 | N | 0.893 | 0.46 | 0.494165489436 | gnomAD-4.0.0 | 1.43348E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.29069E-04 | 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 | 0.9191 | likely_pathogenic | 0.882 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.479613401 | None | None | N |
| G/C | 0.9863 | likely_pathogenic | 0.9772 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/D | 0.9965 | likely_pathogenic | 0.9929 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/E | 0.9982 | likely_pathogenic | 0.996 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.47473833 | None | None | N |
| G/F | 0.9988 | likely_pathogenic | 0.998 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/H | 0.9989 | likely_pathogenic | 0.9975 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/I | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | 0.405 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/K | 0.9992 | likely_pathogenic | 0.9985 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/L | 0.998 | likely_pathogenic | 0.9968 | pathogenic | 0.405 | Stabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/M | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | 0.226 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/N | 0.9981 | likely_pathogenic | 0.9948 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | 0.223 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/Q | 0.9979 | likely_pathogenic | 0.9958 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/R | 0.9968 | likely_pathogenic | 0.9946 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.88 | deleterious | N | 0.473434883 | None | None | N |
| G/S | 0.9558 | likely_pathogenic | 0.9172 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/T | 0.9957 | likely_pathogenic | 0.9924 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/V | 0.9977 | likely_pathogenic | 0.9961 | pathogenic | 0.223 | Stabilizing | 1.0 | D | 0.897 | deleterious | D | 0.524331061 | None | None | N |
| G/W | 0.9976 | likely_pathogenic | 0.9961 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Y | 0.9976 | likely_pathogenic | 0.9956 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.855 | 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.