Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30863 | 92812;92813;92814 | chr2:178549039;178549038;178549037 | chr2:179413766;179413765;179413764 |
| N2AB | 29222 | 87889;87890;87891 | chr2:178549039;178549038;178549037 | chr2:179413766;179413765;179413764 |
| N2A | 28295 | 85108;85109;85110 | chr2:178549039;178549038;178549037 | chr2:179413766;179413765;179413764 |
| N2B | 21798 | 65617;65618;65619 | chr2:178549039;178549038;178549037 | chr2:179413766;179413765;179413764 |
| Novex-1 | 21923 | 65992;65993;65994 | chr2:178549039;178549038;178549037 | chr2:179413766;179413765;179413764 |
| Novex-2 | 21990 | 66193;66194;66195 | chr2:178549039;178549038;178549037 | chr2:179413766;179413765;179413764 |
| 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/T | rs1175884597  |
None | 0.978 | N | 0.762 | 0.242 | 0.306695030598 | gnomAD-4.0.0 | 3.18213E-06 | None | None | None | None | N | None | 1.13109E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.928 | N | 0.699 | 0.3 | 0.356897458496 | gnomAD-4.0.0 | 2.05253E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79886E-06 | 1.15937E-05 | 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 | 0.5703 | likely_pathogenic | 0.5737 | pathogenic | -0.785 | Destabilizing | 0.999 | D | 0.772 | deleterious | None | None | None | None | N |
| A/D | 0.2907 | likely_benign | 0.275 | benign | -0.91 | Destabilizing | 0.978 | D | 0.773 | deleterious | N | 0.508379238 | None | None | N |
| A/E | 0.2618 | likely_benign | 0.2479 | benign | -1.033 | Destabilizing | 0.983 | D | 0.776 | deleterious | None | None | None | None | N |
| A/F | 0.4723 | ambiguous | 0.4658 | ambiguous | -1.115 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| A/G | 0.1195 | likely_benign | 0.1198 | benign | -0.849 | Destabilizing | 0.928 | D | 0.662 | neutral | N | 0.470362355 | None | None | N |
| A/H | 0.5958 | likely_pathogenic | 0.5844 | pathogenic | -0.914 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| A/I | 0.2577 | likely_benign | 0.2426 | benign | -0.506 | Destabilizing | 0.992 | D | 0.79 | deleterious | None | None | None | None | N |
| A/K | 0.457 | ambiguous | 0.4234 | ambiguous | -1.025 | Destabilizing | 0.983 | D | 0.787 | deleterious | None | None | None | None | N |
| A/L | 0.242 | likely_benign | 0.2281 | benign | -0.506 | Destabilizing | 0.944 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/M | 0.2372 | likely_benign | 0.2342 | benign | -0.348 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| A/N | 0.2665 | likely_benign | 0.2598 | benign | -0.602 | Destabilizing | 0.992 | D | 0.802 | deleterious | None | None | None | None | N |
| A/P | 0.2903 | likely_benign | 0.2709 | benign | -0.535 | Destabilizing | 0.085 | N | 0.456 | neutral | N | 0.45995336 | None | None | N |
| A/Q | 0.4072 | ambiguous | 0.3898 | ambiguous | -0.898 | Destabilizing | 0.992 | D | 0.809 | deleterious | None | None | None | None | N |
| A/R | 0.4849 | ambiguous | 0.451 | ambiguous | -0.522 | Destabilizing | 0.992 | D | 0.799 | deleterious | None | None | None | None | N |
| A/S | 0.1007 | likely_benign | 0.0989 | benign | -0.864 | Destabilizing | 0.928 | D | 0.648 | neutral | N | 0.483694224 | None | None | N |
| A/T | 0.0947 | likely_benign | 0.0914 | benign | -0.909 | Destabilizing | 0.978 | D | 0.762 | deleterious | N | 0.494929938 | None | None | N |
| A/V | 0.1269 | likely_benign | 0.1181 | benign | -0.535 | Destabilizing | 0.928 | D | 0.699 | prob.neutral | N | 0.447445423 | None | None | N |
| A/W | 0.8078 | likely_pathogenic | 0.7988 | pathogenic | -1.292 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| A/Y | 0.5664 | likely_pathogenic | 0.5629 | ambiguous | -0.955 | Destabilizing | 0.999 | D | 0.784 | 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.