Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2694 | 8305;8306;8307 | chr2:178771247;178771246;178771245 | chr2:179635974;179635973;179635972 |
| N2AB | 2694 | 8305;8306;8307 | chr2:178771247;178771246;178771245 | chr2:179635974;179635973;179635972 |
| N2A | 2694 | 8305;8306;8307 | chr2:178771247;178771246;178771245 | chr2:179635974;179635973;179635972 |
| N2B | 2648 | 8167;8168;8169 | chr2:178771247;178771246;178771245 | chr2:179635974;179635973;179635972 |
| Novex-1 | 2648 | 8167;8168;8169 | chr2:178771247;178771246;178771245 | chr2:179635974;179635973;179635972 |
| Novex-2 | 2648 | 8167;8168;8169 | chr2:178771247;178771246;178771245 | chr2:179635974;179635973;179635972 |
| Novex-3 | 2694 | 8305;8306;8307 | chr2:178771247;178771246;178771245 | chr2:179635974;179635973;179635972 |
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/S | rs1230162125  |
-0.395 | 1.0 | N | 0.647 | 0.353 | 0.146414634003 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/S | rs1230162125 |
-0.395 | 1.0 | N | 0.647 | 0.353 | 0.146414634003 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| A/S | rs1230162125 |
-0.395 | 1.0 | N | 0.647 | 0.353 | 0.146414634003 | gnomAD-4.0.0 | 6.57229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| A/V | rs754758405 |
-0.001 | 1.0 | N | 0.729 | 0.347 | 0.281780670237 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs754758405 |
-0.001 | 1.0 | N | 0.729 | 0.347 | 0.281780670237 | gnomAD-4.0.0 | 3.18134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.775E-05 | None | 0 | 0 | 0 | 1.43275E-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 | 0.7654 | likely_pathogenic | 0.7466 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/D | 0.4228 | ambiguous | 0.4065 | ambiguous | -0.403 | Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.342940791 | None | None | N |
| A/E | 0.4773 | ambiguous | 0.4597 | ambiguous | -0.553 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| A/F | 0.5953 | likely_pathogenic | 0.577 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/G | 0.1259 | likely_benign | 0.1238 | benign | -0.224 | Destabilizing | 1.0 | D | 0.646 | neutral | N | 0.323986783 | None | None | N |
| A/H | 0.734 | likely_pathogenic | 0.7121 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/I | 0.7077 | likely_pathogenic | 0.7182 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/K | 0.7414 | likely_pathogenic | 0.7189 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/L | 0.3988 | ambiguous | 0.3877 | ambiguous | -0.384 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/M | 0.5317 | ambiguous | 0.5341 | ambiguous | -0.542 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| A/N | 0.4349 | ambiguous | 0.4228 | ambiguous | -0.25 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/P | 0.7997 | likely_pathogenic | 0.7587 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.347462577 | None | None | N |
| A/Q | 0.555 | ambiguous | 0.5322 | ambiguous | -0.506 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/R | 0.6537 | likely_pathogenic | 0.624 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/S | 0.1153 | likely_benign | 0.1119 | benign | -0.452 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.348300775 | None | None | N |
| A/T | 0.2368 | likely_benign | 0.243 | benign | -0.526 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.349837427 | None | None | N |
| A/V | 0.4118 | ambiguous | 0.419 | ambiguous | -0.302 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.334182772 | None | None | N |
| A/W | 0.9331 | likely_pathogenic | 0.9272 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/Y | 0.764 | likely_pathogenic | 0.7492 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.771 | 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.