Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21494 | 64705;64706;64707 | chr2:178585264;178585263;178585262 | chr2:179449991;179449990;179449989 |
| N2AB | 19853 | 59782;59783;59784 | chr2:178585264;178585263;178585262 | chr2:179449991;179449990;179449989 |
| N2A | 18926 | 57001;57002;57003 | chr2:178585264;178585263;178585262 | chr2:179449991;179449990;179449989 |
| N2B | 12429 | 37510;37511;37512 | chr2:178585264;178585263;178585262 | chr2:179449991;179449990;179449989 |
| Novex-1 | 12554 | 37885;37886;37887 | chr2:178585264;178585263;178585262 | chr2:179449991;179449990;179449989 |
| Novex-2 | 12621 | 38086;38087;38088 | chr2:178585264;178585263;178585262 | chr2:179449991;179449990;179449989 |
| 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/L | rs587780492  |
0.024 | 1.0 | D | 0.76 | 0.543 | 0.797964816289 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| P/L | rs587780492 |
0.024 | 1.0 | D | 0.76 | 0.543 | 0.797964816289 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/L | rs587780492 |
0.024 | 1.0 | D | 0.76 | 0.543 | 0.797964816289 | gnomAD-4.0.0 | 2.54172E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.96759E-05 | 0 | 9.60922E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9656 | likely_pathogenic | 0.9511 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.567051751 | None | None | I |
| P/C | 0.9964 | likely_pathogenic | 0.9944 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| P/D | 0.9894 | likely_pathogenic | 0.9851 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| P/E | 0.99 | likely_pathogenic | 0.9857 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| P/F | 0.9984 | likely_pathogenic | 0.9972 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/G | 0.9824 | likely_pathogenic | 0.9775 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| P/H | 0.9894 | likely_pathogenic | 0.9834 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.628726451 | None | None | I |
| P/I | 0.9813 | likely_pathogenic | 0.9712 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| P/K | 0.99 | likely_pathogenic | 0.9857 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| P/L | 0.9665 | likely_pathogenic | 0.9443 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.591347942 | None | None | I |
| P/M | 0.9909 | likely_pathogenic | 0.9843 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| P/N | 0.9891 | likely_pathogenic | 0.9831 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/Q | 0.9886 | likely_pathogenic | 0.982 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/R | 0.9804 | likely_pathogenic | 0.9725 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.781 | deleterious | D | 0.628322842 | None | None | I |
| P/S | 0.9892 | likely_pathogenic | 0.9825 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.566544772 | None | None | I |
| P/T | 0.9677 | likely_pathogenic | 0.9498 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.628322842 | None | None | I |
| P/V | 0.967 | likely_pathogenic | 0.9531 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| P/W | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/Y | 0.9961 | likely_pathogenic | 0.9937 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.802 | 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.