Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9239 | 27940;27941;27942 | chr2:178712115;178712114;178712113 | chr2:179576842;179576841;179576840 |
| N2AB | 8922 | 26989;26990;26991 | chr2:178712115;178712114;178712113 | chr2:179576842;179576841;179576840 |
| N2A | 7995 | 24208;24209;24210 | chr2:178712115;178712114;178712113 | chr2:179576842;179576841;179576840 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs559945666  |
None | 0.915 | N | 0.613 | 0.294 | 0.44711355012 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs559945666 |
None | 0.915 | N | 0.613 | 0.294 | 0.44711355012 | gnomAD-4.0.0 | 2.56219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78588E-06 | 0 | 0 |
| Y/H | rs373068293 |
-1.385 | 0.484 | N | 0.569 | 0.372 | None | gnomAD-2.1.1 | 4.28E-05 | None | None | None | None | N | None | 3.73134E-04 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.4041E-04 |
| Y/H | rs373068293 |
-1.385 | 0.484 | N | 0.569 | 0.372 | None | gnomAD-3.1.2 | 1.18343E-04 | None | None | None | None | N | None | 3.86231E-04 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| Y/H | rs373068293 |
-1.385 | 0.484 | N | 0.569 | 0.372 | None | gnomAD-4.0.0 | 2.97443E-05 | None | None | None | None | N | None | 3.73264E-04 | 5.00167E-05 | None | 0 | 0 | None | 0 | 1.64962E-04 | 0 | 0 | 2.56107E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.8992 | likely_pathogenic | 0.9363 | pathogenic | -2.759 | Highly Destabilizing | 0.149 | N | 0.581 | neutral | None | None | None | None | N |
| Y/C | 0.3754 | ambiguous | 0.4882 | ambiguous | -1.225 | Destabilizing | 0.915 | D | 0.613 | neutral | N | 0.507464119 | None | None | N |
| Y/D | 0.8709 | likely_pathogenic | 0.9086 | pathogenic | -1.847 | Destabilizing | None | N | 0.475 | neutral | N | 0.480712584 | None | None | N |
| Y/E | 0.9181 | likely_pathogenic | 0.9345 | pathogenic | -1.722 | Destabilizing | 0.081 | N | 0.606 | neutral | None | None | None | None | N |
| Y/F | 0.0817 | likely_benign | 0.0821 | benign | -1.076 | Destabilizing | None | N | 0.16 | neutral | N | 0.419247596 | None | None | N |
| Y/G | 0.8451 | likely_pathogenic | 0.8964 | pathogenic | -3.107 | Highly Destabilizing | 0.149 | N | 0.613 | neutral | None | None | None | None | N |
| Y/H | 0.3446 | ambiguous | 0.422 | ambiguous | -1.409 | Destabilizing | 0.484 | N | 0.569 | neutral | N | 0.47074863 | None | None | N |
| Y/I | 0.7777 | likely_pathogenic | 0.7815 | pathogenic | -1.66 | Destabilizing | 0.081 | N | 0.559 | neutral | None | None | None | None | N |
| Y/K | 0.8615 | likely_pathogenic | 0.886 | pathogenic | -1.446 | Destabilizing | 0.149 | N | 0.639 | neutral | None | None | None | None | N |
| Y/L | 0.6624 | likely_pathogenic | 0.6911 | pathogenic | -1.66 | Destabilizing | 0.001 | N | 0.248 | neutral | None | None | None | None | N |
| Y/M | 0.7725 | likely_pathogenic | 0.8036 | pathogenic | -1.271 | Destabilizing | 0.38 | N | 0.605 | neutral | None | None | None | None | N |
| Y/N | 0.544 | ambiguous | 0.5972 | pathogenic | -1.823 | Destabilizing | 0.188 | N | 0.637 | neutral | N | 0.484498019 | None | None | N |
| Y/P | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -2.029 | Highly Destabilizing | 0.555 | D | 0.645 | neutral | None | None | None | None | N |
| Y/Q | 0.7862 | likely_pathogenic | 0.833 | pathogenic | -1.766 | Destabilizing | 0.555 | D | 0.618 | neutral | None | None | None | None | N |
| Y/R | 0.7528 | likely_pathogenic | 0.7945 | pathogenic | -0.956 | Destabilizing | 0.555 | D | 0.633 | neutral | None | None | None | None | N |
| Y/S | 0.6152 | likely_pathogenic | 0.7089 | pathogenic | -2.362 | Highly Destabilizing | 0.117 | N | 0.597 | neutral | N | 0.497980526 | None | None | N |
| Y/T | 0.8488 | likely_pathogenic | 0.8917 | pathogenic | -2.142 | Highly Destabilizing | 0.149 | N | 0.613 | neutral | None | None | None | None | N |
| Y/V | 0.7186 | likely_pathogenic | 0.7482 | pathogenic | -2.029 | Highly Destabilizing | 0.081 | N | 0.565 | neutral | None | None | None | None | N |
| Y/W | 0.4725 | ambiguous | 0.5348 | ambiguous | -0.482 | Destabilizing | 0.555 | D | 0.572 | neutral | 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.