Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9260 | 28003;28004;28005 | chr2:178712052;178712051;178712050 | chr2:179576779;179576778;179576777 |
| N2AB | 8943 | 27052;27053;27054 | chr2:178712052;178712051;178712050 | chr2:179576779;179576778;179576777 |
| N2A | 8016 | 24271;24272;24273 | chr2:178712052;178712051;178712050 | chr2:179576779;179576778;179576777 |
| 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/S | rs777920428  |
-1.929 | 1.0 | N | 0.597 | 0.3 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| A/S | rs777920428 |
-1.929 | 1.0 | N | 0.597 | 0.3 | None | gnomAD-4.0.0 | 6.36529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14337E-05 | 0 | 0 |
| A/T | rs777920428 |
-1.526 | 1.0 | N | 0.709 | 0.279 | 0.235038932564 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.627 | 0.278 | 0.4018988957 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7931 | likely_pathogenic | 0.8104 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/D | 0.9926 | likely_pathogenic | 0.9954 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.463213759 | None | None | N |
| A/E | 0.9856 | likely_pathogenic | 0.9926 | pathogenic | -2.018 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/F | 0.8948 | likely_pathogenic | 0.9192 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/G | 0.3682 | ambiguous | 0.3838 | ambiguous | -1.392 | Destabilizing | 1.0 | D | 0.593 | neutral | N | 0.448821142 | None | None | N |
| A/H | 0.9855 | likely_pathogenic | 0.9926 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/I | 0.8124 | likely_pathogenic | 0.8802 | pathogenic | 0.427 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/K | 0.9955 | likely_pathogenic | 0.998 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/L | 0.6931 | likely_pathogenic | 0.7624 | pathogenic | 0.427 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/M | 0.7879 | likely_pathogenic | 0.8495 | pathogenic | 0.258 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/N | 0.9757 | likely_pathogenic | 0.9851 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/P | 0.9831 | likely_pathogenic | 0.9884 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.819 | deleterious | N | 0.457693577 | None | None | N |
| A/Q | 0.9725 | likely_pathogenic | 0.9855 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/R | 0.9854 | likely_pathogenic | 0.9933 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/S | 0.3584 | ambiguous | 0.3891 | ambiguous | -1.662 | Destabilizing | 1.0 | D | 0.597 | neutral | N | 0.421863827 | None | None | N |
| A/T | 0.5189 | ambiguous | 0.6132 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.500575327 | None | None | N |
| A/V | 0.4974 | ambiguous | 0.6138 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.627 | neutral | N | 0.451462152 | None | None | N |
| A/W | 0.9932 | likely_pathogenic | 0.996 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/Y | 0.9646 | likely_pathogenic | 0.9763 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.85 | 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.