Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5007 | 15244;15245;15246 | chr2:178734905;178734904;178734903 | chr2:179599632;179599631;179599630 |
| N2AB | 4690 | 14293;14294;14295 | chr2:178734905;178734904;178734903 | chr2:179599632;179599631;179599630 |
| N2A | 3763 | 11512;11513;11514 | chr2:178734905;178734904;178734903 | chr2:179599632;179599631;179599630 |
| 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/C | None | None | 1.0 | D | 0.707 | 0.81 | 0.913927925356 | gnomAD-4.0.0 | 1.59307E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86087E-06 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.831 | 0.717 | 0.585017178307 | gnomAD-4.0.0 | 1.59307E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43365E-05 | 0 |
| G/V | None | None | 1.0 | D | 0.784 | 0.804 | 0.9377020764 | gnomAD-4.0.0 | 2.73816E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52832E-05 | None | 0 | 0 | 1.79943E-06 | 1.15988E-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 | 0.7517 | likely_pathogenic | 0.7154 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.627704322 | None | None | I |
| G/C | 0.9775 | likely_pathogenic | 0.9746 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.819862041 | None | None | I |
| G/D | 0.9843 | likely_pathogenic | 0.9749 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.72912795 | None | None | I |
| G/E | 0.9904 | likely_pathogenic | 0.9849 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/F | 0.9954 | likely_pathogenic | 0.9944 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/H | 0.998 | likely_pathogenic | 0.9977 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/I | 0.9853 | likely_pathogenic | 0.9828 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/K | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/L | 0.9919 | likely_pathogenic | 0.9906 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/M | 0.9952 | likely_pathogenic | 0.9945 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/N | 0.9924 | likely_pathogenic | 0.9901 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/P | 0.9985 | likely_pathogenic | 0.9981 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/Q | 0.9966 | likely_pathogenic | 0.9955 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/R | 0.9948 | likely_pathogenic | 0.9933 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.765561252 | None | None | I |
| G/S | 0.8626 | likely_pathogenic | 0.8473 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.602804384 | None | None | I |
| G/T | 0.9715 | likely_pathogenic | 0.9686 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/V | 0.9625 | likely_pathogenic | 0.958 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.785674363 | None | None | I |
| G/W | 0.9932 | likely_pathogenic | 0.9914 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9929 | likely_pathogenic | 0.9919 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
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.