Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8867 | 26824;26825;26826 | chr2:178714059;178714058;178714057 | chr2:179578786;179578785;179578784 |
| N2AB | 8550 | 25873;25874;25875 | chr2:178714059;178714058;178714057 | chr2:179578786;179578785;179578784 |
| N2A | 7623 | 23092;23093;23094 | chr2:178714059;178714058;178714057 | chr2:179578786;179578785;179578784 |
| 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/E | rs369142169  |
-0.305 | 0.957 | N | 0.689 | 0.368 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/E | rs369142169 |
-0.305 | 0.957 | N | 0.689 | 0.368 | None | gnomAD-4.0.0 | 4.79016E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29678E-06 | 0 | 0 |
| G/R | rs762113080 |
-0.355 | 0.978 | N | 0.721 | 0.47 | 0.614872044281 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.47E-05 | 0 |
| G/R | rs762113080 |
-0.355 | 0.978 | N | 0.721 | 0.47 | 0.614872044281 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs762113080 |
-0.355 | 0.978 | N | 0.721 | 0.47 | 0.614872044281 | gnomAD-4.0.0 | 5.39214E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.37472E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2471 | likely_benign | 0.3286 | benign | -0.295 | Destabilizing | 0.085 | N | 0.359 | neutral | N | 0.503156295 | None | None | N |
| G/C | 0.364 | ambiguous | 0.417 | ambiguous | -0.912 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| G/D | 0.1642 | likely_benign | 0.1962 | benign | -0.418 | Destabilizing | 0.11 | N | 0.394 | neutral | None | None | None | None | N |
| G/E | 0.1901 | likely_benign | 0.2654 | benign | -0.566 | Destabilizing | 0.957 | D | 0.689 | prob.neutral | N | 0.483024124 | None | None | N |
| G/F | 0.693 | likely_pathogenic | 0.8087 | pathogenic | -0.943 | Destabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | N |
| G/H | 0.3263 | likely_benign | 0.3932 | ambiguous | -0.425 | Destabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/I | 0.5872 | likely_pathogenic | 0.7139 | pathogenic | -0.426 | Destabilizing | 0.983 | D | 0.751 | deleterious | None | None | None | None | N |
| G/K | 0.2543 | likely_benign | 0.324 | benign | -0.773 | Destabilizing | 0.983 | D | 0.696 | prob.neutral | None | None | None | None | N |
| G/L | 0.5919 | likely_pathogenic | 0.7324 | pathogenic | -0.426 | Destabilizing | 0.968 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/M | 0.5721 | likely_pathogenic | 0.7017 | pathogenic | -0.603 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| G/N | 0.1939 | likely_benign | 0.2281 | benign | -0.466 | Destabilizing | 0.983 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/P | 0.9579 | likely_pathogenic | 0.9813 | pathogenic | -0.351 | Destabilizing | 0.992 | D | 0.704 | prob.neutral | None | None | None | None | N |
| G/Q | 0.2182 | likely_benign | 0.27 | benign | -0.708 | Destabilizing | 0.992 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/R | 0.1793 | likely_benign | 0.2402 | benign | -0.348 | Destabilizing | 0.978 | D | 0.721 | prob.delet. | N | 0.507511161 | None | None | N |
| G/S | 0.1101 | likely_benign | 0.1339 | benign | -0.636 | Destabilizing | 0.895 | D | 0.565 | neutral | None | None | None | None | N |
| G/T | 0.2948 | likely_benign | 0.3998 | ambiguous | -0.708 | Destabilizing | 0.983 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/V | 0.4974 | ambiguous | 0.6345 | pathogenic | -0.351 | Destabilizing | 0.957 | D | 0.726 | prob.delet. | D | 0.538403754 | None | None | N |
| G/W | 0.4843 | ambiguous | 0.6301 | pathogenic | -1.094 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5176 | ambiguous | 0.64 | pathogenic | -0.755 | Destabilizing | 0.999 | D | 0.755 | 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.