Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1170 | 3733;3734;3735 | chr2:178781136;178781135;178781134 | chr2:179645863;179645862;179645861 |
| N2AB | 1170 | 3733;3734;3735 | chr2:178781136;178781135;178781134 | chr2:179645863;179645862;179645861 |
| N2A | 1170 | 3733;3734;3735 | chr2:178781136;178781135;178781134 | chr2:179645863;179645862;179645861 |
| N2B | 1124 | 3595;3596;3597 | chr2:178781136;178781135;178781134 | chr2:179645863;179645862;179645861 |
| Novex-1 | 1124 | 3595;3596;3597 | chr2:178781136;178781135;178781134 | chr2:179645863;179645862;179645861 |
| Novex-2 | 1124 | 3595;3596;3597 | chr2:178781136;178781135;178781134 | chr2:179645863;179645862;179645861 |
| Novex-3 | 1170 | 3733;3734;3735 | chr2:178781136;178781135;178781134 | chr2:179645863;179645862;179645861 |
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/F | rs759110931  |
-0.653 | 0.999 | N | 0.795 | 0.393 | 0.64938254418 | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.63356E-04 | None | 0 | 0 | 0 |
| S/F | rs759110931 |
-0.653 | 0.999 | N | 0.795 | 0.393 | 0.64938254418 | gnomAD-4.0.0 | 5.47318E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.27472E-05 | 0 |
| S/P | rs1387634284 |
-0.124 | 0.999 | N | 0.743 | 0.418 | 0.355450299083 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | I | None | 2.29568E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1387634284 |
-0.124 | 0.999 | N | 0.743 | 0.418 | 0.355450299083 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs1387634284 |
-0.124 | 0.999 | N | 0.743 | 0.418 | 0.355450299083 | gnomAD-4.0.0 | 1.97091E-05 | None | None | None | None | I | None | 7.23624E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1115 | likely_benign | 0.1141 | benign | -0.813 | Destabilizing | 0.977 | D | 0.485 | neutral | N | 0.507679542 | None | None | I |
| S/C | 0.1809 | likely_benign | 0.1741 | benign | -0.35 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.556617921 | None | None | I |
| S/D | 0.6281 | likely_pathogenic | 0.6302 | pathogenic | 0.466 | Stabilizing | 0.993 | D | 0.575 | neutral | None | None | None | None | I |
| S/E | 0.661 | likely_pathogenic | 0.664 | pathogenic | 0.542 | Stabilizing | 0.985 | D | 0.525 | neutral | None | None | None | None | I |
| S/F | 0.2372 | likely_benign | 0.2586 | benign | -0.914 | Destabilizing | 0.999 | D | 0.795 | deleterious | N | 0.513348336 | None | None | I |
| S/G | 0.1652 | likely_benign | 0.176 | benign | -1.112 | Destabilizing | 0.993 | D | 0.525 | neutral | None | None | None | None | I |
| S/H | 0.3813 | ambiguous | 0.384 | ambiguous | -1.333 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| S/I | 0.1839 | likely_benign | 0.1905 | benign | -0.1 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | I |
| S/K | 0.7088 | likely_pathogenic | 0.7062 | pathogenic | 0.059 | Stabilizing | 0.971 | D | 0.526 | neutral | None | None | None | None | I |
| S/L | 0.1394 | likely_benign | 0.1456 | benign | -0.1 | Destabilizing | 0.993 | D | 0.721 | prob.delet. | None | None | None | None | I |
| S/M | 0.2552 | likely_benign | 0.2593 | benign | -0.08 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| S/N | 0.2046 | likely_benign | 0.2005 | benign | -0.117 | Destabilizing | 0.993 | D | 0.569 | neutral | None | None | None | None | I |
| S/P | 0.7385 | likely_pathogenic | 0.7941 | pathogenic | -0.304 | Destabilizing | 0.999 | D | 0.743 | deleterious | N | 0.516816948 | None | None | I |
| S/Q | 0.5246 | ambiguous | 0.5283 | ambiguous | -0.097 | Destabilizing | 0.996 | D | 0.578 | neutral | None | None | None | None | I |
| S/R | 0.5713 | likely_pathogenic | 0.5733 | pathogenic | -0.092 | Destabilizing | 0.171 | N | 0.34 | neutral | None | None | None | None | I |
| S/T | 0.1082 | likely_benign | 0.1064 | benign | -0.187 | Destabilizing | 0.99 | D | 0.542 | neutral | N | 0.455869524 | None | None | I |
| S/V | 0.1958 | likely_benign | 0.2 | benign | -0.304 | Destabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | I |
| S/W | 0.4711 | ambiguous | 0.5026 | ambiguous | -0.869 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| S/Y | 0.2164 | likely_benign | 0.235 | benign | -0.536 | Destabilizing | 0.999 | D | 0.793 | deleterious | N | 0.49424095 | 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.