Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9969 | 30130;30131;30132 | chr2:178704567;178704566;178704565 | chr2:179569294;179569293;179569292 |
| N2AB | 9652 | 29179;29180;29181 | chr2:178704567;178704566;178704565 | chr2:179569294;179569293;179569292 |
| N2A | 8725 | 26398;26399;26400 | chr2:178704567;178704566;178704565 | chr2:179569294;179569293;179569292 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/D | rs756024325  |
-0.264 | 1.0 | None | 0.785 | 0.781 | 0.585473498874 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/D | rs756024325 |
-0.264 | 1.0 | None | 0.785 | 0.781 | 0.585473498874 | gnomAD-4.0.0 | 4.77569E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85896E-06 | 1.43476E-05 | 3.02407E-05 |
| G/R | None | None | 1.0 | None | 0.751 | 0.819 | 0.748789094615 | gnomAD-4.0.0 | 6.8434E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99567E-07 | 0 | 0 |
| G/S | rs961816213 |
-0.664 | 1.0 | None | 0.825 | 0.707 | 0.528614029291 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs961816213 |
-0.664 | 1.0 | None | 0.825 | 0.707 | 0.528614029291 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs961816213 |
-0.664 | 1.0 | None | 0.825 | 0.707 | 0.528614029291 | gnomAD-4.0.0 | 4.3387E-06 | None | None | None | None | N | None | 6.67557E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20225E-05 |
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 | 0.8132 | likely_pathogenic | 0.7712 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/C | 0.9783 | likely_pathogenic | 0.9703 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| G/D | 0.9625 | likely_pathogenic | 0.9433 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/E | 0.9853 | likely_pathogenic | 0.9745 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| G/F | 0.9982 | likely_pathogenic | 0.9975 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/H | 0.9976 | likely_pathogenic | 0.9964 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/I | 0.9976 | likely_pathogenic | 0.996 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/K | 0.9972 | likely_pathogenic | 0.9958 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/L | 0.9963 | likely_pathogenic | 0.9948 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/M | 0.9973 | likely_pathogenic | 0.9959 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/N | 0.9872 | likely_pathogenic | 0.9807 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/Q | 0.9919 | likely_pathogenic | 0.9878 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/R | 0.9932 | likely_pathogenic | 0.9901 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/S | 0.8425 | likely_pathogenic | 0.7799 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/T | 0.986 | likely_pathogenic | 0.9779 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/V | 0.9929 | likely_pathogenic | 0.9886 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/W | 0.9967 | likely_pathogenic | 0.9951 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9975 | likely_pathogenic | 0.9963 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | 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.