Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7120 | 21583;21584;21585 | chr2:178723901;178723900;178723899 | chr2:179588628;179588627;179588626 |
| N2AB | 6803 | 20632;20633;20634 | chr2:178723901;178723900;178723899 | chr2:179588628;179588627;179588626 |
| N2A | 5876 | 17851;17852;17853 | chr2:178723901;178723900;178723899 | chr2:179588628;179588627;179588626 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs764627613  |
-0.885 | 0.996 | D | 0.573 | 0.534 | 0.436239592564 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| N/D | rs764627613 |
-0.885 | 0.996 | D | 0.573 | 0.534 | 0.436239592564 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| N/D | rs764627613 |
-0.885 | 0.996 | D | 0.573 | 0.534 | 0.436239592564 | gnomAD-4.0.0 | 1.98365E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54361E-05 | 0 | 3.20318E-05 |
| N/T | rs192344560 |
-0.505 | 0.992 | D | 0.607 | 0.608 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.05044E-04 | None | 0 | None | 0 | 0 | 0 |
| N/T | rs192344560 |
-0.505 | 0.992 | D | 0.607 | 0.608 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | rs192344560 |
-0.505 | 0.992 | D | 0.607 | 0.608 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| N/T | rs192344560 |
-0.505 | 0.992 | D | 0.607 | 0.608 | None | gnomAD-4.0.0 | 2.56345E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 4.8506E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9685 | likely_pathogenic | 0.9655 | pathogenic | -0.842 | Destabilizing | 0.994 | D | 0.643 | neutral | None | None | None | None | I |
| N/C | 0.9546 | likely_pathogenic | 0.9581 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| N/D | 0.9276 | likely_pathogenic | 0.8939 | pathogenic | -0.982 | Destabilizing | 0.996 | D | 0.573 | neutral | D | 0.563615261 | None | None | I |
| N/E | 0.9947 | likely_pathogenic | 0.9935 | pathogenic | -0.945 | Destabilizing | 0.997 | D | 0.643 | neutral | None | None | None | None | I |
| N/F | 0.9979 | likely_pathogenic | 0.9975 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| N/G | 0.9334 | likely_pathogenic | 0.92 | pathogenic | -1.092 | Destabilizing | 0.997 | D | 0.536 | neutral | None | None | None | None | I |
| N/H | 0.9381 | likely_pathogenic | 0.9247 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.553526403 | None | None | I |
| N/I | 0.9821 | likely_pathogenic | 0.9802 | pathogenic | -0.233 | Destabilizing | 0.999 | D | 0.785 | deleterious | D | 0.565136198 | None | None | I |
| N/K | 0.9948 | likely_pathogenic | 0.9935 | pathogenic | -0.2 | Destabilizing | 0.996 | D | 0.653 | neutral | D | 0.564375729 | None | None | I |
| N/L | 0.9631 | likely_pathogenic | 0.9637 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| N/M | 0.9835 | likely_pathogenic | 0.9822 | pathogenic | 0.38 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| N/P | 0.9903 | likely_pathogenic | 0.9877 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| N/Q | 0.9947 | likely_pathogenic | 0.9938 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| N/R | 0.9911 | likely_pathogenic | 0.9899 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| N/S | 0.4317 | ambiguous | 0.3916 | ambiguous | -0.734 | Destabilizing | 0.905 | D | 0.305 | neutral | N | 0.511744805 | None | None | I |
| N/T | 0.8457 | likely_pathogenic | 0.826 | pathogenic | -0.539 | Destabilizing | 0.992 | D | 0.607 | neutral | D | 0.537370704 | None | None | I |
| N/V | 0.9675 | likely_pathogenic | 0.9649 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| N/W | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| N/Y | 0.9839 | likely_pathogenic | 0.9813 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.546778453 | 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.