Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13752 | 41479;41480;41481 | chr2:178636473;178636472;178636471 | chr2:179501200;179501199;179501198 |
| N2AB | 12111 | 36556;36557;36558 | chr2:178636473;178636472;178636471 | chr2:179501200;179501199;179501198 |
| N2A | 11184 | 33775;33776;33777 | chr2:178636473;178636472;178636471 | chr2:179501200;179501199;179501198 |
| N2B | 4687 | 14284;14285;14286 | chr2:178636473;178636472;178636471 | chr2:179501200;179501199;179501198 |
| Novex-1 | 4812 | 14659;14660;14661 | chr2:178636473;178636472;178636471 | chr2:179501200;179501199;179501198 |
| Novex-2 | 4879 | 14860;14861;14862 | chr2:178636473;178636472;178636471 | chr2:179501200;179501199;179501198 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1349773180  |
-0.582 | 1.0 | D | 0.767 | 0.774 | 0.691037376318 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| D/N | rs1349773180 |
-0.582 | 1.0 | D | 0.767 | 0.774 | 0.691037376318 | gnomAD-4.0.0 | 1.57411E-05 | None | None | None | None | N | None | 2.98954E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79925E-05 | 0 | 3.31444E-05 |
| D/V | None | None | 1.0 | D | 0.867 | 0.895 | 0.870765017468 | gnomAD-4.0.0 | 1.59228E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85986E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9871 | likely_pathogenic | 0.9914 | pathogenic | 0.303 | Stabilizing | 1.0 | D | 0.855 | deleterious | D | 0.802852996 | None | None | N |
| D/C | 0.9964 | likely_pathogenic | 0.9973 | pathogenic | 0.13 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/E | 0.9495 | likely_pathogenic | 0.9652 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.602 | neutral | D | 0.734017673 | None | None | N |
| D/F | 0.9965 | likely_pathogenic | 0.9977 | pathogenic | 0.969 | Stabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| D/G | 0.9913 | likely_pathogenic | 0.9941 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.768086028 | None | None | N |
| D/H | 0.9771 | likely_pathogenic | 0.9816 | pathogenic | 0.5 | Stabilizing | 1.0 | D | 0.831 | deleterious | D | 0.645649839 | None | None | N |
| D/I | 0.9983 | likely_pathogenic | 0.999 | pathogenic | 1.532 | Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| D/K | 0.997 | likely_pathogenic | 0.9978 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| D/L | 0.9964 | likely_pathogenic | 0.9976 | pathogenic | 1.532 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/M | 0.9984 | likely_pathogenic | 0.999 | pathogenic | 1.877 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/N | 0.9287 | likely_pathogenic | 0.9533 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.697827713 | None | None | N |
| D/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | 1.152 | Stabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| D/Q | 0.9926 | likely_pathogenic | 0.9953 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/R | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | -0.031 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| D/S | 0.9676 | likely_pathogenic | 0.9779 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/T | 0.995 | likely_pathogenic | 0.9968 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/V | 0.9922 | likely_pathogenic | 0.9954 | pathogenic | 1.152 | Stabilizing | 1.0 | D | 0.867 | deleterious | D | 0.802042639 | None | None | N |
| D/W | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | 0.991 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/Y | 0.9785 | likely_pathogenic | 0.9858 | pathogenic | 1.202 | Stabilizing | 1.0 | D | 0.865 | deleterious | D | 0.802141211 | 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.