Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26073 | 78442;78443;78444 | chr2:178567915;178567914;178567913 | chr2:179432642;179432641;179432640 |
| N2AB | 24432 | 73519;73520;73521 | chr2:178567915;178567914;178567913 | chr2:179432642;179432641;179432640 |
| N2A | 23505 | 70738;70739;70740 | chr2:178567915;178567914;178567913 | chr2:179432642;179432641;179432640 |
| N2B | 17008 | 51247;51248;51249 | chr2:178567915;178567914;178567913 | chr2:179432642;179432641;179432640 |
| Novex-1 | 17133 | 51622;51623;51624 | chr2:178567915;178567914;178567913 | chr2:179432642;179432641;179432640 |
| Novex-2 | 17200 | 51823;51824;51825 | chr2:178567915;178567914;178567913 | chr2:179432642;179432641;179432640 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs769707850  |
-0.932 | None | N | 0.205 | 0.092 | 0.137902524267 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| V/I | rs769707850 |
-0.932 | None | N | 0.205 | 0.092 | 0.137902524267 | gnomAD-4.0.0 | 4.10578E-06 | None | None | None | None | I | None | 2.99007E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49796E-06 | 0 | 0 |
| V/L | None | None | 0.004 | N | 0.297 | 0.099 | 0.170165803431 | gnomAD-4.0.0 | 6.84297E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99591E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1433 | likely_benign | 0.1669 | benign | -1.42 | Destabilizing | 0.027 | N | 0.493 | neutral | N | 0.487923821 | None | None | I |
| V/C | 0.5624 | ambiguous | 0.5987 | pathogenic | -0.844 | Destabilizing | 0.935 | D | 0.603 | neutral | None | None | None | None | I |
| V/D | 0.5719 | likely_pathogenic | 0.6403 | pathogenic | -1.218 | Destabilizing | 0.38 | N | 0.684 | prob.neutral | None | None | None | None | I |
| V/E | 0.4178 | ambiguous | 0.4562 | ambiguous | -1.263 | Destabilizing | 0.317 | N | 0.676 | prob.neutral | N | 0.495945872 | None | None | I |
| V/F | 0.1478 | likely_benign | 0.1694 | benign | -1.25 | Destabilizing | 0.38 | N | 0.625 | neutral | None | None | None | None | I |
| V/G | 0.2999 | likely_benign | 0.3518 | ambiguous | -1.691 | Destabilizing | 0.117 | N | 0.675 | prob.neutral | N | 0.519497522 | None | None | I |
| V/H | 0.5631 | ambiguous | 0.6388 | pathogenic | -1.148 | Destabilizing | 0.935 | D | 0.685 | prob.neutral | None | None | None | None | I |
| V/I | 0.0564 | likely_benign | 0.057 | benign | -0.791 | Destabilizing | None | N | 0.205 | neutral | N | 0.396611171 | None | None | I |
| V/K | 0.3539 | ambiguous | 0.4009 | ambiguous | -1.063 | Destabilizing | 0.38 | N | 0.68 | prob.neutral | None | None | None | None | I |
| V/L | 0.1276 | likely_benign | 0.1484 | benign | -0.791 | Destabilizing | 0.004 | N | 0.297 | neutral | N | 0.430665029 | None | None | I |
| V/M | 0.1067 | likely_benign | 0.1149 | benign | -0.522 | Destabilizing | 0.38 | N | 0.634 | neutral | None | None | None | None | I |
| V/N | 0.3114 | likely_benign | 0.3795 | ambiguous | -0.749 | Destabilizing | 0.38 | N | 0.691 | prob.neutral | None | None | None | None | I |
| V/P | 0.3604 | ambiguous | 0.4206 | ambiguous | -0.966 | Destabilizing | 0.555 | D | 0.689 | prob.neutral | None | None | None | None | I |
| V/Q | 0.3517 | ambiguous | 0.404 | ambiguous | -1.005 | Destabilizing | 0.555 | D | 0.691 | prob.neutral | None | None | None | None | I |
| V/R | 0.3026 | likely_benign | 0.3621 | ambiguous | -0.447 | Destabilizing | 0.555 | D | 0.693 | prob.neutral | None | None | None | None | I |
| V/S | 0.2176 | likely_benign | 0.2714 | benign | -1.232 | Destabilizing | 0.081 | N | 0.631 | neutral | None | None | None | None | I |
| V/T | 0.1109 | likely_benign | 0.1312 | benign | -1.175 | Destabilizing | 0.002 | N | 0.236 | neutral | None | None | None | None | I |
| V/W | 0.7141 | likely_pathogenic | 0.7647 | pathogenic | -1.352 | Destabilizing | 0.935 | D | 0.705 | prob.neutral | None | None | None | None | I |
| V/Y | 0.4547 | ambiguous | 0.5148 | ambiguous | -1.095 | Destabilizing | 0.555 | D | 0.629 | neutral | 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.