Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9982 | 30169;30170;30171 | chr2:178704528;178704527;178704526 | chr2:179569255;179569254;179569253 |
| N2AB | 9665 | 29218;29219;29220 | chr2:178704528;178704527;178704526 | chr2:179569255;179569254;179569253 |
| N2A | 8738 | 26437;26438;26439 | chr2:178704528;178704527;178704526 | chr2:179569255;179569254;179569253 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs200745162  |
-1.513 | 1.0 | None | 0.681 | 0.35 | None | gnomAD-2.1.1 | 5.75E-05 | None | None | None | None | N | None | 4.14E-05 | 1.71546E-04 | None | 0 | 0 | None | 3.36E-05 | None | 4.02E-05 | 4.7E-05 | 1.41443E-04 |
| A/T | rs200745162 |
-1.513 | 1.0 | None | 0.681 | 0.35 | None | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02899E-04 | 0 | 0 |
| A/T | rs200745162 |
-1.513 | 1.0 | None | 0.681 | 0.35 | None | gnomAD-4.0.0 | 7.08031E-05 | None | None | None | None | N | None | 2.67702E-05 | 8.38364E-05 | None | 0 | 2.22906E-05 | None | 1.56397E-05 | 0 | 8.48983E-05 | 2.2144E-05 | 4.81525E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9286 | likely_pathogenic | 0.9483 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/D | 0.9977 | likely_pathogenic | 0.9966 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/E | 0.996 | likely_pathogenic | 0.9938 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/F | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/G | 0.436 | ambiguous | 0.4588 | ambiguous | -1.337 | Destabilizing | 1.0 | D | 0.547 | neutral | None | None | None | None | N |
| A/H | 0.9972 | likely_pathogenic | 0.9964 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/I | 0.9947 | likely_pathogenic | 0.9937 | pathogenic | 0.064 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/K | 0.9979 | likely_pathogenic | 0.9969 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/L | 0.9749 | likely_pathogenic | 0.9715 | pathogenic | 0.064 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/M | 0.9862 | likely_pathogenic | 0.9841 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/N | 0.9935 | likely_pathogenic | 0.9918 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/P | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/Q | 0.9889 | likely_pathogenic | 0.9855 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/R | 0.99 | likely_pathogenic | 0.9853 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/S | 0.4359 | ambiguous | 0.4208 | ambiguous | -1.533 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| A/T | 0.8791 | likely_pathogenic | 0.8661 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| A/V | 0.96 | likely_pathogenic | 0.9567 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.583 | neutral | None | None | None | None | N |
| A/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/Y | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.833 | 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.