Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6363 | 19312;19313;19314 | chr2:178728951;178728950;178728949 | chr2:179593678;179593677;179593676 |
| N2AB | 6046 | 18361;18362;18363 | chr2:178728951;178728950;178728949 | chr2:179593678;179593677;179593676 |
| N2A | 5119 | 15580;15581;15582 | chr2:178728951;178728950;178728949 | chr2:179593678;179593677;179593676 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.174 | N | 0.627 | 0.291 | 0.351614576976 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.21507E-04 | 0 |
| T/I | rs148471999  |
None | 0.007 | N | 0.531 | 0.168 | 0.284150004643 | gnomAD-4.0.0 | 1.30096E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52964E-05 | 1.16149E-05 | 1.65821E-05 |
| T/N | rs148471999 |
None | 0.642 | N | 0.701 | 0.227 | 0.402899589544 | gnomAD-4.0.0 | 6.84714E-07 | None | None | None | None | N | None | 2.99007E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs1560766830 |
None | 0.003 | N | 0.347 | 0.207 | 0.185906805712 | gnomAD-4.0.0 | 6.84714E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65821E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1246 | likely_benign | 0.123 | benign | -1.571 | Destabilizing | 0.174 | N | 0.627 | neutral | N | 0.492424511 | None | None | N |
| T/C | 0.5649 | likely_pathogenic | 0.5499 | ambiguous | -1.028 | Destabilizing | 0.973 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/D | 0.8201 | likely_pathogenic | 0.8185 | pathogenic | -2.188 | Highly Destabilizing | 0.826 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/E | 0.6799 | likely_pathogenic | 0.6829 | pathogenic | -1.901 | Destabilizing | 0.404 | N | 0.715 | prob.delet. | None | None | None | None | N |
| T/F | 0.2902 | likely_benign | 0.3192 | benign | -0.897 | Destabilizing | 0.826 | D | 0.741 | deleterious | None | None | None | None | N |
| T/G | 0.4933 | ambiguous | 0.4965 | ambiguous | -1.994 | Destabilizing | 0.404 | N | 0.695 | prob.neutral | None | None | None | None | N |
| T/H | 0.4317 | ambiguous | 0.4351 | ambiguous | -1.796 | Destabilizing | 0.973 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/I | 0.1532 | likely_benign | 0.1644 | benign | -0.403 | Destabilizing | 0.007 | N | 0.531 | neutral | N | 0.502156981 | None | None | N |
| T/K | 0.5276 | ambiguous | 0.5127 | ambiguous | -0.595 | Destabilizing | 0.704 | D | 0.718 | prob.delet. | None | None | None | None | N |
| T/L | 0.1429 | likely_benign | 0.1561 | benign | -0.403 | Destabilizing | 0.088 | N | 0.689 | prob.neutral | None | None | None | None | N |
| T/M | 0.1092 | likely_benign | 0.1239 | benign | -0.693 | Destabilizing | 0.826 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/N | 0.3079 | likely_benign | 0.3302 | benign | -1.515 | Destabilizing | 0.642 | D | 0.701 | prob.neutral | N | 0.518290674 | None | None | N |
| T/P | 0.8694 | likely_pathogenic | 0.8713 | pathogenic | -0.769 | Destabilizing | 0.879 | D | 0.739 | prob.delet. | D | 0.529900468 | None | None | N |
| T/Q | 0.4653 | ambiguous | 0.4721 | ambiguous | -1.05 | Destabilizing | 0.826 | D | 0.745 | deleterious | None | None | None | None | N |
| T/R | 0.3947 | ambiguous | 0.3798 | ambiguous | -1.025 | Destabilizing | 0.826 | D | 0.749 | deleterious | None | None | None | None | N |
| T/S | 0.1571 | likely_benign | 0.1639 | benign | -1.717 | Destabilizing | 0.003 | N | 0.347 | neutral | N | 0.496076371 | None | None | N |
| T/V | 0.1423 | likely_benign | 0.1564 | benign | -0.769 | Destabilizing | 0.018 | N | 0.485 | neutral | None | None | None | None | N |
| T/W | 0.724 | likely_pathogenic | 0.7315 | pathogenic | -1.192 | Destabilizing | 0.991 | D | 0.746 | deleterious | None | None | None | None | N |
| T/Y | 0.3886 | ambiguous | 0.3923 | ambiguous | -0.837 | Destabilizing | 0.906 | D | 0.738 | prob.delet. | 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.