Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32405 | 97438;97439;97440 | chr2:178542543;178542542;178542541 | chr2:179407270;179407269;179407268 |
| N2AB | 30764 | 92515;92516;92517 | chr2:178542543;178542542;178542541 | chr2:179407270;179407269;179407268 |
| N2A | 29837 | 89734;89735;89736 | chr2:178542543;178542542;178542541 | chr2:179407270;179407269;179407268 |
| N2B | 23340 | 70243;70244;70245 | chr2:178542543;178542542;178542541 | chr2:179407270;179407269;179407268 |
| Novex-1 | 23465 | 70618;70619;70620 | chr2:178542543;178542542;178542541 | chr2:179407270;179407269;179407268 |
| Novex-2 | 23532 | 70819;70820;70821 | chr2:178542543;178542542;178542541 | chr2:179407270;179407269;179407268 |
| 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 | None | None | 1.0 | N | 0.796 | 0.467 | 0.346768085243 | gnomAD-4.0.0 | 1.37631E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8093E-06 | 0 | 0 |
| G/R | rs767902989  |
-0.379 | 1.0 | N | 0.774 | 0.525 | 0.468834750356 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.33E-05 | None | 0 | 0 | 0 |
| G/R | rs767902989 |
-0.379 | 1.0 | N | 0.774 | 0.525 | 0.468834750356 | gnomAD-4.0.0 | 1.61321E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44396E-05 | 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 | 0.4754 | ambiguous | 0.3497 | ambiguous | -0.265 | Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.505695932 | None | None | N |
| G/C | 0.8113 | likely_pathogenic | 0.6461 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/D | 0.9074 | likely_pathogenic | 0.8151 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/E | 0.891 | likely_pathogenic | 0.7827 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.471113797 | None | None | N |
| G/F | 0.9514 | likely_pathogenic | 0.9032 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/H | 0.9656 | likely_pathogenic | 0.9132 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/I | 0.9042 | likely_pathogenic | 0.813 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/K | 0.9533 | likely_pathogenic | 0.8958 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/L | 0.9139 | likely_pathogenic | 0.8401 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/M | 0.9538 | likely_pathogenic | 0.8977 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/N | 0.9162 | likely_pathogenic | 0.8322 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/P | 0.895 | likely_pathogenic | 0.8489 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| G/Q | 0.9421 | likely_pathogenic | 0.8686 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/R | 0.9258 | likely_pathogenic | 0.8346 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.487927833 | None | None | N |
| G/S | 0.4947 | ambiguous | 0.3338 | benign | -0.63 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/T | 0.809 | likely_pathogenic | 0.66 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/V | 0.8542 | likely_pathogenic | 0.7253 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.501223149 | None | None | N |
| G/W | 0.935 | likely_pathogenic | 0.8603 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9318 | likely_pathogenic | 0.8582 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | 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.