Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31472 | 94639;94640;94641 | chr2:178547111;178547110;178547109 | chr2:179411838;179411837;179411836 |
| N2AB | 29831 | 89716;89717;89718 | chr2:178547111;178547110;178547109 | chr2:179411838;179411837;179411836 |
| N2A | 28904 | 86935;86936;86937 | chr2:178547111;178547110;178547109 | chr2:179411838;179411837;179411836 |
| N2B | 22407 | 67444;67445;67446 | chr2:178547111;178547110;178547109 | chr2:179411838;179411837;179411836 |
| Novex-1 | 22532 | 67819;67820;67821 | chr2:178547111;178547110;178547109 | chr2:179411838;179411837;179411836 |
| Novex-2 | 22599 | 68020;68021;68022 | chr2:178547111;178547110;178547109 | chr2:179411838;179411837;179411836 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1331080177  |
-0.38 | 0.489 | N | 0.141 | 0.244 | 0.180583059064 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs1331080177 |
-0.38 | 0.489 | N | 0.141 | 0.244 | 0.180583059064 | gnomAD-4.0.0 | 2.05263E-06 | None | None | None | None | N | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31863E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1955 | likely_benign | 0.178 | benign | -0.459 | Destabilizing | 0.835 | D | 0.383 | neutral | N | 0.509359083 | None | None | N |
| G/C | 0.3399 | likely_benign | 0.2658 | benign | -0.876 | Destabilizing | 1.0 | D | 0.571 | neutral | D | 0.537124577 | None | None | N |
| G/D | 0.2729 | likely_benign | 0.2502 | benign | -0.757 | Destabilizing | 0.925 | D | 0.387 | neutral | N | 0.515732072 | None | None | N |
| G/E | 0.413 | ambiguous | 0.3898 | ambiguous | -0.892 | Destabilizing | 0.97 | D | 0.447 | neutral | None | None | None | None | N |
| G/F | 0.7878 | likely_pathogenic | 0.7087 | pathogenic | -1.07 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| G/H | 0.5087 | ambiguous | 0.4558 | ambiguous | -0.763 | Destabilizing | 0.999 | D | 0.498 | neutral | None | None | None | None | N |
| G/I | 0.6869 | likely_pathogenic | 0.6121 | pathogenic | -0.442 | Destabilizing | 0.991 | D | 0.55 | neutral | None | None | None | None | N |
| G/K | 0.7252 | likely_pathogenic | 0.6893 | pathogenic | -1.014 | Destabilizing | 0.97 | D | 0.446 | neutral | None | None | None | None | N |
| G/L | 0.6395 | likely_pathogenic | 0.5695 | pathogenic | -0.442 | Destabilizing | 0.991 | D | 0.512 | neutral | None | None | None | None | N |
| G/M | 0.637 | likely_pathogenic | 0.5641 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.562 | neutral | None | None | None | None | N |
| G/N | 0.1931 | likely_benign | 0.1709 | benign | -0.649 | Destabilizing | 0.304 | N | 0.159 | neutral | None | None | None | None | N |
| G/P | 0.9295 | likely_pathogenic | 0.8975 | pathogenic | -0.412 | Destabilizing | 0.996 | D | 0.481 | neutral | None | None | None | None | N |
| G/Q | 0.4845 | ambiguous | 0.442 | ambiguous | -0.909 | Destabilizing | 0.996 | D | 0.493 | neutral | None | None | None | None | N |
| G/R | 0.6182 | likely_pathogenic | 0.5903 | pathogenic | -0.554 | Destabilizing | 0.994 | D | 0.48 | neutral | N | 0.491508318 | None | None | N |
| G/S | 0.0971 | likely_benign | 0.0952 | benign | -0.813 | Destabilizing | 0.489 | N | 0.141 | neutral | N | 0.479783164 | None | None | N |
| G/T | 0.2312 | likely_benign | 0.2163 | benign | -0.871 | Destabilizing | 0.304 | N | 0.306 | neutral | None | None | None | None | N |
| G/V | 0.5202 | ambiguous | 0.4562 | ambiguous | -0.412 | Destabilizing | 0.989 | D | 0.517 | neutral | D | 0.525096708 | None | None | N |
| G/W | 0.7226 | likely_pathogenic | 0.6519 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | N |
| G/Y | 0.662 | likely_pathogenic | 0.5855 | pathogenic | -0.907 | Destabilizing | 0.999 | D | 0.565 | 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.