Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 73 | 442;443;444 | chr2:178802216;178802215;178802214 | chr2:179666943;179666942;179666941 |
| N2AB | 73 | 442;443;444 | chr2:178802216;178802215;178802214 | chr2:179666943;179666942;179666941 |
| N2A | 73 | 442;443;444 | chr2:178802216;178802215;178802214 | chr2:179666943;179666942;179666941 |
| N2B | 73 | 442;443;444 | chr2:178802216;178802215;178802214 | chr2:179666943;179666942;179666941 |
| Novex-1 | 73 | 442;443;444 | chr2:178802216;178802215;178802214 | chr2:179666943;179666942;179666941 |
| Novex-2 | 73 | 442;443;444 | chr2:178802216;178802215;178802214 | chr2:179666943;179666942;179666941 |
| Novex-3 | 73 | 442;443;444 | chr2:178802216;178802215;178802214 | chr2:179666943;179666942;179666941 |
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 | None | None | 0.001 | N | 0.327 | 0.082 | 0.119812018005 | gnomAD-4.0.0 | 6.84057E-07 | None | None | None | -0.188(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99292E-07 | 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 | 0.9207 | likely_pathogenic | 0.9516 | pathogenic | -0.721 | Destabilizing | 0.997 | D | 0.731 | prob.delet. | None | None | None | 0.36(TCAP) | N |
| A/D | 0.1771 | likely_benign | 0.2567 | benign | -0.309 | Destabilizing | 0.915 | D | 0.817 | deleterious | N | 0.380363936 | None | -0.033(TCAP) | N |
| A/E | 0.1461 | likely_benign | 0.1998 | benign | -0.466 | Destabilizing | 0.976 | D | 0.799 | deleterious | None | None | None | -0.114(TCAP) | N |
| A/F | 0.4738 | ambiguous | 0.5839 | pathogenic | -0.832 | Destabilizing | 0.997 | D | 0.831 | deleterious | None | None | None | 0.673(TCAP) | N |
| A/G | 0.1527 | likely_benign | 0.1847 | benign | -0.169 | Destabilizing | 0.001 | N | 0.327 | neutral | N | 0.448095825 | None | -0.188(TCAP) | N |
| A/H | 0.625 | likely_pathogenic | 0.7414 | pathogenic | -0.203 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | 0.478(TCAP) | N |
| A/I | 0.3149 | likely_benign | 0.4234 | ambiguous | -0.288 | Destabilizing | 0.991 | D | 0.813 | deleterious | None | None | None | -0.123(TCAP) | N |
| A/K | 0.4449 | ambiguous | 0.589 | pathogenic | -0.432 | Destabilizing | 0.982 | D | 0.8 | deleterious | None | None | None | -0.061(TCAP) | N |
| A/L | 0.2283 | likely_benign | 0.2991 | benign | -0.288 | Destabilizing | 0.991 | D | 0.713 | prob.delet. | None | None | None | -0.123(TCAP) | N |
| A/M | 0.3091 | likely_benign | 0.3923 | ambiguous | -0.328 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | 0.115(TCAP) | N |
| A/N | 0.2118 | likely_benign | 0.281 | benign | -0.15 | Destabilizing | 0.627 | D | 0.812 | deleterious | None | None | None | 0.014(TCAP) | N |
| A/P | 0.3119 | likely_benign | 0.4125 | ambiguous | -0.211 | Destabilizing | 0.956 | D | 0.815 | deleterious | N | 0.449100201 | None | -0.128(TCAP) | N |
| A/Q | 0.2967 | likely_benign | 0.3688 | ambiguous | -0.419 | Destabilizing | 0.991 | D | 0.827 | deleterious | None | None | None | 0.1(TCAP) | N |
| A/R | 0.4306 | ambiguous | 0.5625 | ambiguous | -0.004 | Destabilizing | 0.991 | D | 0.814 | deleterious | None | None | None | -0.538(TCAP) | N |
| A/S | 0.0914 | likely_benign | 0.1087 | benign | -0.355 | Destabilizing | 0.102 | N | 0.537 | neutral | N | 0.385658754 | None | 0.259(TCAP) | N |
| A/T | 0.0966 | likely_benign | 0.1177 | benign | -0.432 | Destabilizing | 0.876 | D | 0.703 | prob.neutral | N | 0.431650115 | None | 0.228(TCAP) | N |
| A/V | 0.1556 | likely_benign | 0.2057 | benign | -0.211 | Destabilizing | 0.897 | D | 0.671 | neutral | N | 0.452851607 | None | -0.128(TCAP) | N |
| A/W | 0.8523 | likely_pathogenic | 0.9139 | pathogenic | -0.96 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | 0.746(TCAP) | N |
| A/Y | 0.6282 | likely_pathogenic | 0.7338 | pathogenic | -0.608 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | 0.731(TCAP) | 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.