Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31997 | 96214;96215;96216 | chr2:178544240;178544239;178544238 | chr2:179408967;179408966;179408965 |
| N2AB | 30356 | 91291;91292;91293 | chr2:178544240;178544239;178544238 | chr2:179408967;179408966;179408965 |
| N2A | 29429 | 88510;88511;88512 | chr2:178544240;178544239;178544238 | chr2:179408967;179408966;179408965 |
| N2B | 22932 | 69019;69020;69021 | chr2:178544240;178544239;178544238 | chr2:179408967;179408966;179408965 |
| Novex-1 | 23057 | 69394;69395;69396 | chr2:178544240;178544239;178544238 | chr2:179408967;179408966;179408965 |
| Novex-2 | 23124 | 69595;69596;69597 | chr2:178544240;178544239;178544238 | chr2:179408967;179408966;179408965 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 1.0 | D | 0.866 | 0.667 | 0.6685257 | gnomAD-4.0.0 | 6.84264E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-05 | 0 |
| S/G | rs763864462  |
-1.344 | 0.999 | D | 0.887 | 0.537 | 0.41219622 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 1.78E-05 | 1.66168E-04 |
| S/G | rs763864462 |
-1.344 | 0.999 | D | 0.887 | 0.537 | 0.41219622 | gnomAD-4.0.0 | 6.84264E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.20472E-04 | 2.69867E-06 | 3.47826E-05 | 1.65673E-05 |
| S/N | None | None | 0.999 | D | 0.895 | 0.477 | 0.48692083 | gnomAD-4.0.0 | 1.59162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8826E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1393 | likely_benign | 0.1197 | benign | -0.876 | Destabilizing | 0.998 | D | 0.842 | deleterious | None | None | None | None | N |
| S/C | 0.1448 | likely_benign | 0.1277 | benign | -0.82 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.52591157 | None | None | N |
| S/D | 0.919 | likely_pathogenic | 0.8796 | pathogenic | -1.324 | Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| S/E | 0.9342 | likely_pathogenic | 0.8967 | pathogenic | -1.245 | Destabilizing | 0.999 | D | 0.894 | deleterious | None | None | None | None | N |
| S/F | 0.7945 | likely_pathogenic | 0.7032 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| S/G | 0.1661 | likely_benign | 0.1492 | benign | -1.184 | Destabilizing | 0.999 | D | 0.887 | deleterious | D | 0.5382389 | None | None | N |
| S/H | 0.8608 | likely_pathogenic | 0.8017 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| S/I | 0.5894 | likely_pathogenic | 0.4722 | ambiguous | -0.137 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.5367609 | None | None | N |
| S/K | 0.9735 | likely_pathogenic | 0.9512 | pathogenic | -0.826 | Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| S/L | 0.4004 | ambiguous | 0.3151 | benign | -0.137 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| S/M | 0.5787 | likely_pathogenic | 0.4905 | ambiguous | 0.015 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| S/N | 0.6356 | likely_pathogenic | 0.5518 | ambiguous | -1.12 | Destabilizing | 0.999 | D | 0.895 | deleterious | D | 0.5365074 | None | None | N |
| S/P | 0.8554 | likely_pathogenic | 0.8367 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| S/Q | 0.8878 | likely_pathogenic | 0.8405 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| S/R | 0.9408 | likely_pathogenic | 0.8994 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.5176427 | None | None | N |
| S/T | 0.1627 | likely_benign | 0.1397 | benign | -0.949 | Destabilizing | 0.999 | D | 0.892 | deleterious | N | 0.50451195 | None | None | N |
| S/V | 0.469 | ambiguous | 0.3739 | ambiguous | -0.35 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| S/W | 0.8843 | likely_pathogenic | 0.8165 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| S/Y | 0.7799 | likely_pathogenic | 0.6834 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
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.