Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6033 | 18322;18323;18324 | chr2:178730303;178730302;178730301 | chr2:179595030;179595029;179595028 |
| N2AB | 5716 | 17371;17372;17373 | chr2:178730303;178730302;178730301 | chr2:179595030;179595029;179595028 |
| N2A | 4789 | 14590;14591;14592 | chr2:178730303;178730302;178730301 | chr2:179595030;179595029;179595028 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs771457862  |
-1.92 | 0.98 | N | 0.719 | 0.313 | 0.187945064343 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.73E-05 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs771457862 |
-1.92 | 0.98 | N | 0.719 | 0.313 | 0.187945064343 | gnomAD-4.0.0 | 1.59626E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79033E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | None | None | 0.998 | N | 0.821 | 0.307 | 0.223146558224 | gnomAD-4.0.0 | 6.85132E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16417E-05 | 0 |
| A/T | None | None | 0.961 | N | 0.721 | 0.228 | 0.188950314367 | gnomAD-4.0.0 | 6.85132E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.002E-07 | 0 | 0 |
| A/V | rs771457862 |
None | 0.122 | N | 0.41 | 0.25 | 0.193865811164 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs771457862 |
None | 0.122 | N | 0.41 | 0.25 | 0.193865811164 | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | N | None | 2.41383E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5432 | ambiguous | 0.5138 | ambiguous | -0.844 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/D | 0.9516 | likely_pathogenic | 0.9488 | pathogenic | -1.772 | Destabilizing | 0.998 | D | 0.859 | deleterious | N | 0.46421449 | None | None | N |
| A/E | 0.943 | likely_pathogenic | 0.9405 | pathogenic | -1.591 | Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| A/F | 0.7048 | likely_pathogenic | 0.7019 | pathogenic | -0.499 | Destabilizing | 0.991 | D | 0.861 | deleterious | None | None | None | None | N |
| A/G | 0.2047 | likely_benign | 0.2321 | benign | -1.233 | Destabilizing | 0.98 | D | 0.719 | prob.delet. | N | 0.485512661 | None | None | N |
| A/H | 0.9622 | likely_pathogenic | 0.9552 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/I | 0.4263 | ambiguous | 0.4302 | ambiguous | 0.488 | Stabilizing | 0.942 | D | 0.775 | deleterious | None | None | None | None | N |
| A/K | 0.9879 | likely_pathogenic | 0.9867 | pathogenic | -0.786 | Destabilizing | 0.996 | D | 0.835 | deleterious | None | None | None | None | N |
| A/L | 0.4153 | ambiguous | 0.4078 | ambiguous | 0.488 | Stabilizing | 0.871 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/M | 0.4884 | ambiguous | 0.4738 | ambiguous | 0.189 | Stabilizing | 0.871 | D | 0.674 | neutral | None | None | None | None | N |
| A/N | 0.8611 | likely_pathogenic | 0.8549 | pathogenic | -1.026 | Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| A/P | 0.9496 | likely_pathogenic | 0.9538 | pathogenic | 0.117 | Stabilizing | 0.998 | D | 0.821 | deleterious | N | 0.46421449 | None | None | N |
| A/Q | 0.9415 | likely_pathogenic | 0.9351 | pathogenic | -0.84 | Destabilizing | 0.996 | D | 0.826 | deleterious | None | None | None | None | N |
| A/R | 0.9754 | likely_pathogenic | 0.9718 | pathogenic | -0.974 | Destabilizing | 0.996 | D | 0.825 | deleterious | None | None | None | None | N |
| A/S | 0.1737 | likely_benign | 0.1737 | benign | -1.466 | Destabilizing | 0.98 | D | 0.717 | prob.delet. | N | 0.437124068 | None | None | N |
| A/T | 0.1805 | likely_benign | 0.1718 | benign | -1.151 | Destabilizing | 0.961 | D | 0.721 | prob.delet. | N | 0.471698001 | None | None | N |
| A/V | 0.1725 | likely_benign | 0.1675 | benign | 0.117 | Stabilizing | 0.122 | N | 0.41 | neutral | N | 0.404200786 | None | None | N |
| A/W | 0.9732 | likely_pathogenic | 0.9705 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/Y | 0.8841 | likely_pathogenic | 0.8775 | pathogenic | -0.645 | Destabilizing | 0.999 | D | 0.858 | 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.