Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28249 | 84970;84971;84972 | chr2:178561387;178561386;178561385 | chr2:179426114;179426113;179426112 |
| N2AB | 26608 | 80047;80048;80049 | chr2:178561387;178561386;178561385 | chr2:179426114;179426113;179426112 |
| N2A | 25681 | 77266;77267;77268 | chr2:178561387;178561386;178561385 | chr2:179426114;179426113;179426112 |
| N2B | 19184 | 57775;57776;57777 | chr2:178561387;178561386;178561385 | chr2:179426114;179426113;179426112 |
| Novex-1 | 19309 | 58150;58151;58152 | chr2:178561387;178561386;178561385 | chr2:179426114;179426113;179426112 |
| Novex-2 | 19376 | 58351;58352;58353 | chr2:178561387;178561386;178561385 | chr2:179426114;179426113;179426112 |
| 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 | rs1258499464  |
-1.906 | 1.0 | N | 0.742 | 0.354 | 0.406120066682 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1258499464 |
-1.906 | 1.0 | N | 0.742 | 0.354 | 0.406120066682 | gnomAD-4.0.0 | 1.59128E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 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 | 0.7804 | likely_pathogenic | 0.7877 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/D | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -3.003 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/E | 0.9936 | likely_pathogenic | 0.9942 | pathogenic | -2.884 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.52179548 | None | None | N |
| A/F | 0.9812 | likely_pathogenic | 0.9836 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/G | 0.6763 | likely_pathogenic | 0.6632 | pathogenic | -1.711 | Destabilizing | 0.999 | D | 0.537 | neutral | N | 0.506364251 | None | None | N |
| A/H | 0.9959 | likely_pathogenic | 0.9966 | pathogenic | -1.794 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/I | 0.86 | likely_pathogenic | 0.859 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| A/K | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/L | 0.7791 | likely_pathogenic | 0.7858 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/M | 0.9086 | likely_pathogenic | 0.9098 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/N | 0.9891 | likely_pathogenic | 0.9897 | pathogenic | -1.817 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/P | 0.9544 | likely_pathogenic | 0.958 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.501769122 | None | None | N |
| A/Q | 0.9839 | likely_pathogenic | 0.9862 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/R | 0.9903 | likely_pathogenic | 0.9915 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/S | 0.3906 | ambiguous | 0.4058 | ambiguous | -2.13 | Highly Destabilizing | 0.999 | D | 0.59 | neutral | D | 0.537026126 | None | None | N |
| A/T | 0.7132 | likely_pathogenic | 0.6872 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.502792626 | None | None | N |
| A/V | 0.5995 | likely_pathogenic | 0.5875 | pathogenic | -0.673 | Destabilizing | 0.999 | D | 0.661 | prob.neutral | N | 0.499678754 | None | None | N |
| A/W | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9939 | likely_pathogenic | 0.9947 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.798 | 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.