Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5948 | 18067;18068;18069 | chr2:178730691;178730690;178730689 | chr2:179595418;179595417;179595416 |
| N2AB | 5631 | 17116;17117;17118 | chr2:178730691;178730690;178730689 | chr2:179595418;179595417;179595416 |
| N2A | 4704 | 14335;14336;14337 | chr2:178730691;178730690;178730689 | chr2:179595418;179595417;179595416 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs772946744  |
-2.37 | 0.822 | N | 0.619 | 0.34 | 0.743893448314 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.69E-05 | 0 |
| I/T | rs772946744 |
-2.37 | 0.822 | N | 0.619 | 0.34 | 0.743893448314 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/T | rs772946744 |
-2.37 | 0.822 | N | 0.619 | 0.34 | 0.743893448314 | gnomAD-4.0.0 | 1.2395E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69535E-05 | 0 | 0 |
| I/V | rs780320662 |
-1.704 | 0.294 | N | 0.421 | 0.191 | 0.550759897685 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.58E-05 | 0 |
| I/V | rs780320662 |
-1.704 | 0.294 | N | 0.421 | 0.191 | 0.550759897685 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs780320662 |
-1.704 | 0.294 | N | 0.421 | 0.191 | 0.550759897685 | gnomAD-4.0.0 | 6.81727E-06 | None | None | None | None | N | None | 1.33486E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47675E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.921 | likely_pathogenic | 0.9204 | pathogenic | -2.554 | Highly Destabilizing | 0.754 | D | 0.487 | neutral | None | None | None | None | N |
| I/C | 0.9768 | likely_pathogenic | 0.9786 | pathogenic | -1.75 | Destabilizing | 0.998 | D | 0.616 | neutral | None | None | None | None | N |
| I/D | 0.9959 | likely_pathogenic | 0.9965 | pathogenic | -2.562 | Highly Destabilizing | 0.993 | D | 0.731 | prob.delet. | None | None | None | None | N |
| I/E | 0.9905 | likely_pathogenic | 0.9926 | pathogenic | -2.432 | Highly Destabilizing | 0.978 | D | 0.725 | prob.delet. | None | None | None | None | N |
| I/F | 0.5285 | ambiguous | 0.5175 | ambiguous | -1.718 | Destabilizing | 0.956 | D | 0.597 | neutral | None | None | None | None | N |
| I/G | 0.9905 | likely_pathogenic | 0.9916 | pathogenic | -3.032 | Highly Destabilizing | 0.978 | D | 0.719 | prob.delet. | None | None | None | None | N |
| I/H | 0.9853 | likely_pathogenic | 0.9876 | pathogenic | -2.393 | Highly Destabilizing | 0.998 | D | 0.687 | prob.neutral | None | None | None | None | N |
| I/K | 0.9758 | likely_pathogenic | 0.9784 | pathogenic | -1.915 | Destabilizing | 0.942 | D | 0.721 | prob.delet. | N | 0.500594261 | None | None | N |
| I/L | 0.1938 | likely_benign | 0.1969 | benign | -1.213 | Destabilizing | 0.126 | N | 0.365 | neutral | N | 0.507792953 | None | None | N |
| I/M | 0.2164 | likely_benign | 0.1524 | benign | -0.955 | Destabilizing | 0.126 | N | 0.387 | neutral | N | 0.507507739 | None | None | N |
| I/N | 0.9566 | likely_pathogenic | 0.9669 | pathogenic | -1.972 | Destabilizing | 0.978 | D | 0.739 | prob.delet. | None | None | None | None | N |
| I/P | 0.9505 | likely_pathogenic | 0.9545 | pathogenic | -1.637 | Destabilizing | 0.993 | D | 0.741 | deleterious | None | None | None | None | N |
| I/Q | 0.9737 | likely_pathogenic | 0.9736 | pathogenic | -1.995 | Destabilizing | 0.978 | D | 0.735 | prob.delet. | None | None | None | None | N |
| I/R | 0.9643 | likely_pathogenic | 0.9695 | pathogenic | -1.435 | Destabilizing | 0.942 | D | 0.743 | deleterious | D | 0.528106265 | None | None | N |
| I/S | 0.9501 | likely_pathogenic | 0.9549 | pathogenic | -2.665 | Highly Destabilizing | 0.956 | D | 0.633 | neutral | None | None | None | None | N |
| I/T | 0.9425 | likely_pathogenic | 0.9569 | pathogenic | -2.399 | Highly Destabilizing | 0.822 | D | 0.619 | neutral | N | 0.493365785 | None | None | N |
| I/V | 0.1335 | likely_benign | 0.1437 | benign | -1.637 | Destabilizing | 0.294 | N | 0.421 | neutral | N | 0.488566392 | None | None | N |
| I/W | 0.9857 | likely_pathogenic | 0.9853 | pathogenic | -2.002 | Highly Destabilizing | 0.998 | D | 0.68 | prob.neutral | None | None | None | None | N |
| I/Y | 0.9352 | likely_pathogenic | 0.934 | pathogenic | -1.769 | Destabilizing | 0.978 | D | 0.663 | neutral | 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.