Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18039 | 54340;54341;54342 | chr2:178605062;178605061;178605060 | chr2:179469789;179469788;179469787 |
| N2AB | 16398 | 49417;49418;49419 | chr2:178605062;178605061;178605060 | chr2:179469789;179469788;179469787 |
| N2A | 15471 | 46636;46637;46638 | chr2:178605062;178605061;178605060 | chr2:179469789;179469788;179469787 |
| N2B | 8974 | 27145;27146;27147 | chr2:178605062;178605061;178605060 | chr2:179469789;179469788;179469787 |
| Novex-1 | 9099 | 27520;27521;27522 | chr2:178605062;178605061;178605060 | chr2:179469789;179469788;179469787 |
| Novex-2 | 9166 | 27721;27722;27723 | chr2:178605062;178605061;178605060 | chr2:179469789;179469788;179469787 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs765148928  |
-0.209 | 1.0 | D | 0.735 | 0.662 | 0.582828786496 | gnomAD-2.1.1 | 4.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.84E-05 | 0 |
| D/N | rs765148928 |
-0.209 | 1.0 | D | 0.735 | 0.662 | 0.582828786496 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 7.36E-05 | 0 | 0 |
| D/N | rs765148928 |
-0.209 | 1.0 | D | 0.735 | 0.662 | 0.582828786496 | gnomAD-4.0.0 | 7.19509E-05 | None | None | None | None | N | None | 0 | 1.66917E-05 | None | 0 | 0 | None | 0 | 0 | 9.07587E-05 | 0 | 1.28209E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8604 | likely_pathogenic | 0.8653 | pathogenic | 0.444 | Stabilizing | 1.0 | D | 0.827 | deleterious | D | 0.6004577 | None | None | N |
| D/C | 0.9335 | likely_pathogenic | 0.9418 | pathogenic | 0.259 | Stabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| D/E | 0.7406 | likely_pathogenic | 0.7085 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.637 | neutral | D | 0.595067911 | None | None | N |
| D/F | 0.953 | likely_pathogenic | 0.9557 | pathogenic | 1.157 | Stabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| D/G | 0.8732 | likely_pathogenic | 0.8626 | pathogenic | None | Stabilizing | 1.0 | D | 0.775 | deleterious | D | 0.622018652 | None | None | N |
| D/H | 0.6711 | likely_pathogenic | 0.7081 | pathogenic | 0.851 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.550945908 | None | None | N |
| D/I | 0.9588 | likely_pathogenic | 0.9647 | pathogenic | 1.626 | Stabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| D/K | 0.9782 | likely_pathogenic | 0.9758 | pathogenic | 0.239 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/L | 0.9479 | likely_pathogenic | 0.953 | pathogenic | 1.626 | Stabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| D/M | 0.9545 | likely_pathogenic | 0.9592 | pathogenic | 1.843 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/N | 0.3084 | likely_benign | 0.3487 | ambiguous | -0.585 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.580502258 | None | None | N |
| D/P | 0.9977 | likely_pathogenic | 0.9976 | pathogenic | 1.262 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/Q | 0.9047 | likely_pathogenic | 0.9059 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/R | 0.9871 | likely_pathogenic | 0.9859 | pathogenic | 0.335 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| D/S | 0.6573 | likely_pathogenic | 0.6713 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/T | 0.9028 | likely_pathogenic | 0.9127 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/V | 0.9005 | likely_pathogenic | 0.9112 | pathogenic | 1.262 | Stabilizing | 1.0 | D | 0.863 | deleterious | D | 0.638441622 | None | None | N |
| D/W | 0.9914 | likely_pathogenic | 0.9919 | pathogenic | 1.219 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/Y | 0.7835 | likely_pathogenic | 0.7828 | pathogenic | 1.425 | Stabilizing | 1.0 | D | 0.88 | deleterious | D | 0.622220456 | 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.