Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6629 | 20110;20111;20112 | chr2:178727693;178727692;178727691 | chr2:179592420;179592419;179592418 |
| N2AB | 6312 | 19159;19160;19161 | chr2:178727693;178727692;178727691 | chr2:179592420;179592419;179592418 |
| N2A | 5385 | 16378;16379;16380 | chr2:178727693;178727692;178727691 | chr2:179592420;179592419;179592418 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1484625101  |
-1.507 | None | N | 0.369 | 0.097 | 0.0666544352282 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs1484625101 |
-1.507 | None | N | 0.369 | 0.097 | 0.0666544352282 | gnomAD-4.0.0 | 1.59241E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | rs2079601523 |
None | 0.01 | N | 0.754 | 0.224 | 0.259272394797 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/I | rs2079601523 |
None | 0.01 | N | 0.754 | 0.224 | 0.259272394797 | gnomAD-4.0.0 | 6.57748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0771 | likely_benign | 0.078 | benign | -0.664 | Destabilizing | 0.007 | N | 0.459 | neutral | None | None | None | None | N |
| S/C | 0.0897 | likely_benign | 0.0837 | benign | -0.101 | Destabilizing | None | N | 0.541 | neutral | N | 0.459384852 | None | None | N |
| S/D | 0.8559 | likely_pathogenic | 0.8371 | pathogenic | -1.19 | Destabilizing | 0.072 | N | 0.707 | prob.neutral | None | None | None | None | N |
| S/E | 0.9111 | likely_pathogenic | 0.9024 | pathogenic | -0.95 | Destabilizing | 0.072 | N | 0.704 | prob.neutral | None | None | None | None | N |
| S/F | 0.4825 | ambiguous | 0.4795 | ambiguous | -0.396 | Destabilizing | 0.214 | N | 0.747 | deleterious | None | None | None | None | N |
| S/G | 0.0848 | likely_benign | 0.0717 | benign | -1.095 | Destabilizing | None | N | 0.369 | neutral | N | 0.436142633 | None | None | N |
| S/H | 0.6993 | likely_pathogenic | 0.6833 | pathogenic | -1.256 | Destabilizing | 0.864 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/I | 0.195 | likely_benign | 0.1897 | benign | 0.459 | Stabilizing | 0.01 | N | 0.754 | deleterious | N | 0.472581828 | None | None | N |
| S/K | 0.9627 | likely_pathogenic | 0.9614 | pathogenic | 0.272 | Stabilizing | 0.072 | N | 0.705 | prob.neutral | None | None | None | None | N |
| S/L | 0.2017 | likely_benign | 0.2083 | benign | 0.459 | Stabilizing | 0.016 | N | 0.71 | prob.delet. | None | None | None | None | N |
| S/M | 0.3141 | likely_benign | 0.3242 | benign | 0.325 | Stabilizing | 0.214 | N | 0.74 | deleterious | None | None | None | None | N |
| S/N | 0.3891 | ambiguous | 0.3504 | ambiguous | -0.573 | Destabilizing | 0.055 | N | 0.687 | prob.neutral | N | 0.512256545 | None | None | N |
| S/P | 0.5051 | ambiguous | 0.5064 | ambiguous | 0.118 | Stabilizing | 0.356 | N | 0.774 | deleterious | None | None | None | None | N |
| S/Q | 0.8593 | likely_pathogenic | 0.8553 | pathogenic | -0.218 | Destabilizing | 0.356 | N | 0.73 | prob.delet. | None | None | None | None | N |
| S/R | 0.924 | likely_pathogenic | 0.9217 | pathogenic | -0.272 | Destabilizing | 0.171 | N | 0.779 | deleterious | N | 0.454477573 | None | None | N |
| S/T | 0.0908 | likely_benign | 0.0856 | benign | -0.223 | Destabilizing | None | N | 0.431 | neutral | N | 0.456112473 | None | None | N |
| S/V | 0.1767 | likely_benign | 0.1772 | benign | 0.118 | Stabilizing | None | N | 0.634 | neutral | None | None | None | None | N |
| S/W | 0.7049 | likely_pathogenic | 0.7165 | pathogenic | -0.704 | Destabilizing | 0.864 | D | 0.75 | deleterious | None | None | None | None | N |
| S/Y | 0.4551 | ambiguous | 0.4556 | ambiguous | -0.21 | Destabilizing | 0.356 | N | 0.743 | 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.