Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18400 | 55423;55424;55425 | chr2:178602073;178602072;178602071 | chr2:179466800;179466799;179466798 |
| N2AB | 16759 | 50500;50501;50502 | chr2:178602073;178602072;178602071 | chr2:179466800;179466799;179466798 |
| N2A | 15832 | 47719;47720;47721 | chr2:178602073;178602072;178602071 | chr2:179466800;179466799;179466798 |
| N2B | 9335 | 28228;28229;28230 | chr2:178602073;178602072;178602071 | chr2:179466800;179466799;179466798 |
| Novex-1 | 9460 | 28603;28604;28605 | chr2:178602073;178602072;178602071 | chr2:179466800;179466799;179466798 |
| Novex-2 | 9527 | 28804;28805;28806 | chr2:178602073;178602072;178602071 | chr2:179466800;179466799;179466798 |
| 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 | rs769472573  |
-1.151 | 1.0 | N | 0.808 | 0.388 | 0.194818534648 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.61558E-04 | None | 0 | 0 | 0 |
| A/T | rs769472573 |
-1.151 | 1.0 | N | 0.808 | 0.388 | 0.194818534648 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14594E-04 | 0 |
| A/T | rs769472573 |
-1.151 | 1.0 | N | 0.808 | 0.388 | 0.194818534648 | gnomAD-4.0.0 | 1.9842E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.51571E-04 | 0 |
| A/V | None | None | 1.0 | N | 0.736 | 0.384 | 0.283761946502 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 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 | 0.6452 | likely_pathogenic | 0.6541 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| A/D | 0.9966 | likely_pathogenic | 0.9979 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.485116676 | None | None | N |
| A/E | 0.9934 | likely_pathogenic | 0.9957 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/F | 0.9366 | likely_pathogenic | 0.9517 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/G | 0.4242 | ambiguous | 0.4361 | ambiguous | -0.843 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.484863186 | None | None | N |
| A/H | 0.9943 | likely_pathogenic | 0.9963 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/I | 0.6689 | likely_pathogenic | 0.7016 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/K | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/L | 0.7017 | likely_pathogenic | 0.7319 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/M | 0.7914 | likely_pathogenic | 0.8179 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/N | 0.9894 | likely_pathogenic | 0.9926 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/P | 0.9867 | likely_pathogenic | 0.9924 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.485116676 | None | None | N |
| A/Q | 0.9864 | likely_pathogenic | 0.9901 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/R | 0.9914 | likely_pathogenic | 0.994 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/S | 0.3954 | ambiguous | 0.4115 | ambiguous | -0.948 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.484609697 | None | None | N |
| A/T | 0.4188 | ambiguous | 0.4691 | ambiguous | -0.842 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.466251952 | None | None | N |
| A/V | 0.2979 | likely_benign | 0.3356 | benign | -0.183 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.472348575 | None | None | N |
| A/W | 0.9966 | likely_pathogenic | 0.9977 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/Y | 0.9833 | likely_pathogenic | 0.9883 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.897 | 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.