Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10130 | 30613;30614;30615 | chr2:178702499;178702498;178702497 | chr2:179567226;179567225;179567224 |
| N2AB | 9813 | 29662;29663;29664 | chr2:178702499;178702498;178702497 | chr2:179567226;179567225;179567224 |
| N2A | 8886 | 26881;26882;26883 | chr2:178702499;178702498;178702497 | chr2:179567226;179567225;179567224 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/H | rs373355159  |
-1.265 | 1.0 | None | 0.656 | 0.332 | None | gnomAD-2.1.1 | 1.99525E-04 | None | None | None | None | N | None | 4.13E-05 | 5.65E-05 | None | 0 | 0 | None | 9.8E-05 | None | 4E-05 | 3.65901E-04 | 2.79955E-04 |
| R/H | rs373355159 |
-1.265 | 1.0 | None | 0.656 | 0.332 | None | gnomAD-3.1.2 | 1.90634E-04 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 3.67485E-04 | 0 | 4.78469E-04 |
| R/H | rs373355159 |
-1.265 | 1.0 | None | 0.656 | 0.332 | None | gnomAD-4.0.0 | 3.12305E-04 | None | None | None | None | N | None | 6.67485E-05 | 4.99983E-05 | None | 0 | 0 | None | 9.37793E-05 | 0 | 3.94107E-04 | 6.58747E-05 | 3.04195E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9434 | likely_pathogenic | 0.9693 | pathogenic | -0.689 | Destabilizing | 0.992 | D | 0.659 | neutral | None | None | None | None | N |
| R/C | 0.7219 | likely_pathogenic | 0.7968 | pathogenic | -0.554 | Destabilizing | 0.783 | D | 0.515 | neutral | None | None | None | None | N |
| R/D | 0.9697 | likely_pathogenic | 0.9787 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/E | 0.9158 | likely_pathogenic | 0.9417 | pathogenic | -0.026 | Destabilizing | 0.999 | D | 0.662 | neutral | None | None | None | None | N |
| R/F | 0.9746 | likely_pathogenic | 0.9808 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| R/G | 0.8898 | likely_pathogenic | 0.9247 | pathogenic | -0.986 | Destabilizing | 0.998 | D | 0.667 | neutral | None | None | None | None | N |
| R/H | 0.4315 | ambiguous | 0.5026 | ambiguous | -1.331 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| R/I | 0.8949 | likely_pathogenic | 0.9377 | pathogenic | 0.103 | Stabilizing | 0.999 | D | 0.756 | deleterious | None | None | None | None | N |
| R/K | 0.4133 | ambiguous | 0.498 | ambiguous | -0.769 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| R/L | 0.8303 | likely_pathogenic | 0.88 | pathogenic | 0.103 | Stabilizing | 0.996 | D | 0.681 | prob.neutral | None | None | None | None | N |
| R/M | 0.9318 | likely_pathogenic | 0.9565 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/N | 0.9332 | likely_pathogenic | 0.9557 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| R/P | 0.9232 | likely_pathogenic | 0.955 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| R/Q | 0.4539 | ambiguous | 0.5568 | ambiguous | -0.377 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| R/S | 0.945 | likely_pathogenic | 0.9648 | pathogenic | -0.881 | Destabilizing | 0.998 | D | 0.653 | neutral | None | None | None | None | N |
| R/T | 0.8822 | likely_pathogenic | 0.9359 | pathogenic | -0.604 | Destabilizing | 0.996 | D | 0.657 | neutral | None | None | None | None | N |
| R/V | 0.9306 | likely_pathogenic | 0.9615 | pathogenic | -0.14 | Destabilizing | 0.998 | D | 0.697 | prob.neutral | None | None | None | None | N |
| R/W | 0.8285 | likely_pathogenic | 0.8554 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/Y | 0.9356 | likely_pathogenic | 0.9477 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.751 | 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.