Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34157 | 102694;102695;102696 | chr2:178534146;178534145;178534144 | chr2:179398873;179398872;179398871 |
| N2AB | 32516 | 97771;97772;97773 | chr2:178534146;178534145;178534144 | chr2:179398873;179398872;179398871 |
| N2A | 31589 | 94990;94991;94992 | chr2:178534146;178534145;178534144 | chr2:179398873;179398872;179398871 |
| N2B | 25092 | 75499;75500;75501 | chr2:178534146;178534145;178534144 | chr2:179398873;179398872;179398871 |
| Novex-1 | 25217 | 75874;75875;75876 | chr2:178534146;178534145;178534144 | chr2:179398873;179398872;179398871 |
| Novex-2 | 25284 | 76075;76076;76077 | chr2:178534146;178534145;178534144 | chr2:179398873;179398872;179398871 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | N | 0.915 | 0.645 | 0.866705139298 | gnomAD-4.0.0 | 1.36831E-06 | None | None | disulfide | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 8.9941E-07 | 0 | 0 |
| C/S | rs1690398019  |
None | 1.0 | N | 0.787 | 0.649 | 0.765205214495 | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs1690398019 |
None | 1.0 | N | 0.787 | 0.649 | 0.765205214495 | gnomAD-4.0.0 | 1.85892E-06 | None | None | disulfide | None | N | None | 1.33497E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69509E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9784 | likely_pathogenic | 0.9854 | pathogenic | -1.73 | Destabilizing | 0.998 | D | 0.727 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9272 | likely_pathogenic | 0.9374 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.907 | deleterious | N | 0.515501603 | disulfide | None | N |
| C/G | 0.9383 | likely_pathogenic | 0.9539 | pathogenic | -2.095 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | N | 0.489003557 | disulfide | None | N |
| C/H | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -2.253 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9815 | likely_pathogenic | 0.9861 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9407 | likely_pathogenic | 0.9577 | pathogenic | -0.755 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9827 | likely_pathogenic | 0.9876 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9952 | likely_pathogenic | 0.9958 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.915 | deleterious | N | 0.515755092 | disulfide | None | N |
| C/S | 0.9808 | likely_pathogenic | 0.9855 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.486041043 | disulfide | None | N |
| C/T | 0.9864 | likely_pathogenic | 0.991 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | disulfide | None | N |
| C/V | 0.962 | likely_pathogenic | 0.975 | pathogenic | -1.056 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9898 | likely_pathogenic | 0.9904 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.878 | deleterious | N | 0.515755092 | disulfide | None | N |
| C/Y | 0.9793 | likely_pathogenic | 0.9806 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.917 | deleterious | N | 0.497397348 | disulfide | 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.