Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21754 | 65485;65486;65487 | chr2:178584291;178584290;178584289 | chr2:179449018;179449017;179449016 |
| N2AB | 20113 | 60562;60563;60564 | chr2:178584291;178584290;178584289 | chr2:179449018;179449017;179449016 |
| N2A | 19186 | 57781;57782;57783 | chr2:178584291;178584290;178584289 | chr2:179449018;179449017;179449016 |
| N2B | 12689 | 38290;38291;38292 | chr2:178584291;178584290;178584289 | chr2:179449018;179449017;179449016 |
| Novex-1 | 12814 | 38665;38666;38667 | chr2:178584291;178584290;178584289 | chr2:179449018;179449017;179449016 |
| Novex-2 | 12881 | 38866;38867;38868 | chr2:178584291;178584290;178584289 | chr2:179449018;179449017;179449016 |
| 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/P | rs1463700856  |
None | 1.0 | N | 0.807 | 0.342 | 0.522559126029 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1463700856 |
None | 1.0 | N | 0.807 | 0.342 | 0.522559126029 | gnomAD-4.0.0 | 2.74205E-06 | None | None | None | None | N | None | 3.50201E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.999 | N | 0.597 | 0.323 | 0.441636318388 | gnomAD-4.0.0 | 1.73204E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.61285E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7449 | likely_pathogenic | 0.7234 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/D | 0.9979 | likely_pathogenic | 0.9964 | pathogenic | -3.009 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| A/E | 0.9948 | likely_pathogenic | 0.9914 | pathogenic | -2.809 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.504130573 | None | None | N |
| A/F | 0.9847 | likely_pathogenic | 0.9764 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/G | 0.7062 | likely_pathogenic | 0.6156 | pathogenic | -2.021 | Highly Destabilizing | 0.999 | D | 0.564 | neutral | N | 0.478139506 | None | None | N |
| A/H | 0.9964 | likely_pathogenic | 0.9951 | pathogenic | -2.106 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/I | 0.9072 | likely_pathogenic | 0.8187 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| A/K | 0.9984 | likely_pathogenic | 0.9973 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/L | 0.7979 | likely_pathogenic | 0.7231 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/M | 0.9154 | likely_pathogenic | 0.8591 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/N | 0.9866 | likely_pathogenic | 0.977 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/P | 0.8654 | likely_pathogenic | 0.772 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.464742058 | None | None | N |
| A/Q | 0.9873 | likely_pathogenic | 0.9824 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/R | 0.9908 | likely_pathogenic | 0.9891 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/S | 0.46 | ambiguous | 0.3791 | ambiguous | -2.293 | Highly Destabilizing | 0.999 | D | 0.597 | neutral | N | 0.479683216 | None | None | N |
| A/T | 0.6794 | likely_pathogenic | 0.5063 | ambiguous | -1.982 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.470706767 | None | None | N |
| A/V | 0.6704 | likely_pathogenic | 0.5009 | ambiguous | -0.767 | Destabilizing | 0.999 | D | 0.667 | prob.neutral | N | 0.50808845 | None | None | N |
| A/W | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.737 | deleterious | None | None | None | None | N |
| A/Y | 0.9948 | likely_pathogenic | 0.9927 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.826 | 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.