Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34948 | 105067;105068;105069 | chr2:178531773;178531772;178531771 | chr2:179396500;179396499;179396498 |
| N2AB | 33307 | 100144;100145;100146 | chr2:178531773;178531772;178531771 | chr2:179396500;179396499;179396498 |
| N2A | 32380 | 97363;97364;97365 | chr2:178531773;178531772;178531771 | chr2:179396500;179396499;179396498 |
| N2B | 25883 | 77872;77873;77874 | chr2:178531773;178531772;178531771 | chr2:179396500;179396499;179396498 |
| Novex-1 | 26008 | 78247;78248;78249 | chr2:178531773;178531772;178531771 | chr2:179396500;179396499;179396498 |
| Novex-2 | 26075 | 78448;78449;78450 | chr2:178531773;178531772;178531771 | chr2:179396500;179396499;179396498 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs1248715319  |
-0.852 | 0.985 | N | 0.601 | 0.327 | 0.30212335484 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| M/I | rs1248715319 |
-0.852 | 0.985 | N | 0.601 | 0.327 | 0.30212335484 | gnomAD-4.0.0 | 1.5909E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85755E-06 | 0 | 0 |
| M/T | None | None | 0.994 | N | 0.725 | 0.488 | 0.622375070377 | 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 |
| M/V | rs1313337141 |
-1.437 | 0.985 | N | 0.543 | 0.303 | 0.304760801415 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| M/V | rs1313337141 |
-1.437 | 0.985 | N | 0.543 | 0.303 | 0.304760801415 | gnomAD-4.0.0 | 8.20968E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07928E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.9847 | likely_pathogenic | 0.9861 | pathogenic | -2.369 | Highly Destabilizing | 0.989 | D | 0.659 | neutral | None | None | None | None | N |
| M/C | 0.9842 | likely_pathogenic | 0.9861 | pathogenic | -2.014 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| M/D | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.817 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| M/E | 0.9961 | likely_pathogenic | 0.9957 | pathogenic | -1.615 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| M/F | 0.9061 | likely_pathogenic | 0.9126 | pathogenic | -0.803 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| M/G | 0.9924 | likely_pathogenic | 0.9922 | pathogenic | -2.832 | Highly Destabilizing | 0.995 | D | 0.775 | deleterious | None | None | None | None | N |
| M/H | 0.9961 | likely_pathogenic | 0.9956 | pathogenic | -2.285 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| M/I | 0.974 | likely_pathogenic | 0.9816 | pathogenic | -1.05 | Destabilizing | 0.985 | D | 0.601 | neutral | N | 0.402661991 | None | None | N |
| M/K | 0.9881 | likely_pathogenic | 0.9862 | pathogenic | -1.453 | Destabilizing | 0.994 | D | 0.739 | prob.delet. | N | 0.503095557 | None | None | N |
| M/L | 0.6091 | likely_pathogenic | 0.6456 | pathogenic | -1.05 | Destabilizing | 0.927 | D | 0.419 | neutral | N | 0.333489907 | None | None | N |
| M/N | 0.994 | likely_pathogenic | 0.993 | pathogenic | -1.677 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| M/P | 0.9861 | likely_pathogenic | 0.9887 | pathogenic | -1.471 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| M/Q | 0.9664 | likely_pathogenic | 0.9632 | pathogenic | -1.439 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | None | None | None | None | N |
| M/R | 0.99 | likely_pathogenic | 0.9892 | pathogenic | -1.387 | Destabilizing | 0.998 | D | 0.791 | deleterious | N | 0.465654676 | None | None | N |
| M/S | 0.9906 | likely_pathogenic | 0.9902 | pathogenic | -2.302 | Highly Destabilizing | 0.995 | D | 0.706 | prob.neutral | None | None | None | None | N |
| M/T | 0.9919 | likely_pathogenic | 0.9925 | pathogenic | -1.981 | Destabilizing | 0.994 | D | 0.725 | prob.delet. | N | 0.473119366 | None | None | N |
| M/V | 0.8442 | likely_pathogenic | 0.858 | pathogenic | -1.471 | Destabilizing | 0.985 | D | 0.543 | neutral | N | 0.431291387 | None | None | N |
| M/W | 0.9956 | likely_pathogenic | 0.9953 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| M/Y | 0.9931 | likely_pathogenic | 0.9921 | pathogenic | -1.083 | Destabilizing | 0.999 | D | 0.799 | 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.