Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25555 | 76888;76889;76890 | chr2:178569469;178569468;178569467 | chr2:179434196;179434195;179434194 |
| N2AB | 23914 | 71965;71966;71967 | chr2:178569469;178569468;178569467 | chr2:179434196;179434195;179434194 |
| N2A | 22987 | 69184;69185;69186 | chr2:178569469;178569468;178569467 | chr2:179434196;179434195;179434194 |
| N2B | 16490 | 49693;49694;49695 | chr2:178569469;178569468;178569467 | chr2:179434196;179434195;179434194 |
| Novex-1 | 16615 | 50068;50069;50070 | chr2:178569469;178569468;178569467 | chr2:179434196;179434195;179434194 |
| Novex-2 | 16682 | 50269;50270;50271 | chr2:178569469;178569468;178569467 | chr2:179434196;179434195;179434194 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs1035031578  |
-0.02 | 1.0 | N | 0.575 | 0.345 | 0.352048277211 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1035031578 |
-0.02 | 1.0 | N | 0.575 | 0.345 | 0.352048277211 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1035031578 |
-0.02 | 1.0 | N | 0.575 | 0.345 | 0.352048277211 | gnomAD-4.0.0 | 6.2008E-06 | None | None | None | None | N | None | 1.20205E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60231E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6265 | likely_pathogenic | 0.6635 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| A/D | 0.8978 | likely_pathogenic | 0.9229 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.496417514 | None | None | N |
| A/E | 0.8641 | likely_pathogenic | 0.894 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/F | 0.8268 | likely_pathogenic | 0.8591 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/G | 0.2538 | likely_benign | 0.2842 | benign | -0.931 | Destabilizing | 1.0 | D | 0.52 | neutral | N | 0.491857056 | None | None | N |
| A/H | 0.9179 | likely_pathogenic | 0.9361 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| A/I | 0.6229 | likely_pathogenic | 0.6524 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| A/K | 0.9437 | likely_pathogenic | 0.9551 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| A/L | 0.6151 | likely_pathogenic | 0.6472 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| A/M | 0.6129 | likely_pathogenic | 0.6551 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| A/N | 0.7957 | likely_pathogenic | 0.8364 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/P | 0.7717 | likely_pathogenic | 0.8293 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.452245393 | None | None | N |
| A/Q | 0.8498 | likely_pathogenic | 0.8737 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| A/R | 0.9164 | likely_pathogenic | 0.9318 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/S | 0.1627 | likely_benign | 0.1809 | benign | -1.27 | Destabilizing | 1.0 | D | 0.521 | neutral | N | 0.503959561 | None | None | N |
| A/T | 0.2007 | likely_benign | 0.2344 | benign | -1.181 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.503268915 | None | None | N |
| A/V | 0.298 | likely_benign | 0.3218 | benign | -0.26 | Destabilizing | 1.0 | D | 0.575 | neutral | N | 0.458344702 | None | None | N |
| A/W | 0.9719 | likely_pathogenic | 0.981 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| A/Y | 0.8925 | likely_pathogenic | 0.9169 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | 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.