Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15920 | 47983;47984;47985 | chr2:178617327;178617326;178617325 | chr2:179482054;179482053;179482052 |
| N2AB | 14279 | 43060;43061;43062 | chr2:178617327;178617326;178617325 | chr2:179482054;179482053;179482052 |
| N2A | 13352 | 40279;40280;40281 | chr2:178617327;178617326;178617325 | chr2:179482054;179482053;179482052 |
| N2B | 6855 | 20788;20789;20790 | chr2:178617327;178617326;178617325 | chr2:179482054;179482053;179482052 |
| Novex-1 | 6980 | 21163;21164;21165 | chr2:178617327;178617326;178617325 | chr2:179482054;179482053;179482052 |
| Novex-2 | 7047 | 21364;21365;21366 | chr2:178617327;178617326;178617325 | chr2:179482054;179482053;179482052 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs775513269  |
-0.475 | 0.998 | N | 0.631 | 0.293 | 0.18995819373 | gnomAD-2.1.1 | 4.46E-05 | None | None | None | None | N | None | 0 | 3.57455E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs775513269 |
-0.475 | 0.998 | N | 0.631 | 0.293 | 0.18995819373 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs775513269 |
-0.475 | 0.998 | N | 0.631 | 0.293 | 0.18995819373 | gnomAD-4.0.0 | 1.89511E-05 | None | None | None | None | N | None | 0 | 2.63126E-04 | None | 0 | 0 | None | 0 | 0 | 2.49368E-06 | 0 | 0 |
| K/R | rs1223537376 |
None | 0.467 | N | 0.335 | 0.122 | 0.193865811164 | gnomAD-4.0.0 | 1.70641E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.62343E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3714 | ambiguous | 0.3739 | ambiguous | -0.62 | Destabilizing | 0.994 | D | 0.619 | neutral | None | None | None | None | N |
| K/C | 0.6837 | likely_pathogenic | 0.6829 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| K/D | 0.5949 | likely_pathogenic | 0.5876 | pathogenic | 0.049 | Stabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| K/E | 0.1833 | likely_benign | 0.1728 | benign | 0.162 | Stabilizing | 0.992 | D | 0.511 | neutral | N | 0.465523802 | None | None | N |
| K/F | 0.7832 | likely_pathogenic | 0.785 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| K/G | 0.607 | likely_pathogenic | 0.6092 | pathogenic | -0.971 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | N |
| K/H | 0.309 | likely_benign | 0.3321 | benign | -1.216 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| K/I | 0.2891 | likely_benign | 0.2842 | benign | 0.283 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| K/L | 0.3329 | likely_benign | 0.334 | benign | 0.283 | Stabilizing | 0.998 | D | 0.722 | prob.delet. | None | None | None | None | N |
| K/M | 0.2096 | likely_benign | 0.2054 | benign | 0.104 | Stabilizing | 1.0 | D | 0.773 | deleterious | N | 0.468385403 | None | None | N |
| K/N | 0.4148 | ambiguous | 0.421 | ambiguous | -0.463 | Destabilizing | 0.999 | D | 0.656 | neutral | N | 0.480890737 | None | None | N |
| K/P | 0.7252 | likely_pathogenic | 0.7514 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| K/Q | 0.1516 | likely_benign | 0.1619 | benign | -0.525 | Destabilizing | 0.998 | D | 0.631 | neutral | N | 0.479440291 | None | None | N |
| K/R | 0.084 | likely_benign | 0.0871 | benign | -0.5 | Destabilizing | 0.467 | N | 0.335 | neutral | N | 0.443844264 | None | None | N |
| K/S | 0.4353 | ambiguous | 0.4329 | ambiguous | -1.172 | Destabilizing | 0.997 | D | 0.589 | neutral | None | None | None | None | N |
| K/T | 0.129 | likely_benign | 0.1247 | benign | -0.848 | Destabilizing | 0.999 | D | 0.764 | deleterious | N | 0.410746138 | None | None | N |
| K/V | 0.2568 | likely_benign | 0.2602 | benign | 0.012 | Stabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| K/W | 0.7761 | likely_pathogenic | 0.7839 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| K/Y | 0.636 | likely_pathogenic | 0.6428 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.805 | 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.