Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20504 | 61735;61736;61737 | chr2:178590215;178590214;178590213 | chr2:179454942;179454941;179454940 |
| N2AB | 18863 | 56812;56813;56814 | chr2:178590215;178590214;178590213 | chr2:179454942;179454941;179454940 |
| N2A | 17936 | 54031;54032;54033 | chr2:178590215;178590214;178590213 | chr2:179454942;179454941;179454940 |
| N2B | 11439 | 34540;34541;34542 | chr2:178590215;178590214;178590213 | chr2:179454942;179454941;179454940 |
| Novex-1 | 11564 | 34915;34916;34917 | chr2:178590215;178590214;178590213 | chr2:179454942;179454941;179454940 |
| Novex-2 | 11631 | 35116;35117;35118 | chr2:178590215;178590214;178590213 | chr2:179454942;179454941;179454940 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs765388232  |
-0.077 | 1.0 | D | 0.762 | 0.711 | 0.717373546064 | gnomAD-2.1.1 | 4.18E-06 | None | None | None | None | I | None | 0 | 2.98E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs765388232 |
-0.077 | 1.0 | D | 0.762 | 0.711 | 0.717373546064 | gnomAD-4.0.0 | 6.88953E-07 | None | None | None | None | I | None | 0 | 2.27759E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs765388232 |
-0.286 | 1.0 | D | 0.77 | 0.718 | 0.734656905842 | gnomAD-2.1.1 | 4.18E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.18E-06 | 0 |
| P/S | rs765388232 |
-0.286 | 1.0 | D | 0.77 | 0.718 | 0.734656905842 | gnomAD-4.0.0 | 6.88953E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03417E-07 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.769 | 0.708 | 0.765495324787 | gnomAD-4.0.0 | 2.75581E-06 | None | None | None | None | I | None | 3.01332E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.56752E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9284 | likely_pathogenic | 0.9688 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.561949642 | None | None | I |
| P/C | 0.9927 | likely_pathogenic | 0.9967 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| P/D | 0.987 | likely_pathogenic | 0.9931 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| P/E | 0.9796 | likely_pathogenic | 0.9906 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| P/F | 0.9966 | likely_pathogenic | 0.9987 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| P/G | 0.9734 | likely_pathogenic | 0.9874 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/H | 0.9836 | likely_pathogenic | 0.992 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.612242761 | None | None | I |
| P/I | 0.9744 | likely_pathogenic | 0.9877 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| P/K | 0.9833 | likely_pathogenic | 0.9915 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| P/L | 0.9295 | likely_pathogenic | 0.9656 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.612242761 | None | None | I |
| P/M | 0.98 | likely_pathogenic | 0.9905 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| P/N | 0.9872 | likely_pathogenic | 0.994 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| P/Q | 0.9742 | likely_pathogenic | 0.9895 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/R | 0.9674 | likely_pathogenic | 0.9848 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.809 | deleterious | D | 0.637377264 | None | None | I |
| P/S | 0.9779 | likely_pathogenic | 0.9912 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.572963553 | None | None | I |
| P/T | 0.9365 | likely_pathogenic | 0.9706 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.637377264 | None | None | I |
| P/V | 0.9522 | likely_pathogenic | 0.9775 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| P/W | 0.9978 | likely_pathogenic | 0.9989 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| P/Y | 0.9953 | likely_pathogenic | 0.998 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.83 | 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.