Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26074 | 78445;78446;78447 | chr2:178567912;178567911;178567910 | chr2:179432639;179432638;179432637 |
| N2AB | 24433 | 73522;73523;73524 | chr2:178567912;178567911;178567910 | chr2:179432639;179432638;179432637 |
| N2A | 23506 | 70741;70742;70743 | chr2:178567912;178567911;178567910 | chr2:179432639;179432638;179432637 |
| N2B | 17009 | 51250;51251;51252 | chr2:178567912;178567911;178567910 | chr2:179432639;179432638;179432637 |
| Novex-1 | 17134 | 51625;51626;51627 | chr2:178567912;178567911;178567910 | chr2:179432639;179432638;179432637 |
| Novex-2 | 17201 | 51826;51827;51828 | chr2:178567912;178567911;178567910 | chr2:179432639;179432638;179432637 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.882 | 0.805 | 0.56903317303 | gnomAD-4.0.0 | 1.59174E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-06 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.816 | 0.597 | 0.368183359018 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.898 | 0.819 | 0.74841305917 | gnomAD-4.0.0 | 1.59174E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6599 | likely_pathogenic | 0.7115 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.531630848 | None | None | I |
| G/C | 0.8923 | likely_pathogenic | 0.9208 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.55150953 | None | None | I |
| G/D | 0.99 | likely_pathogenic | 0.9931 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.550495572 | None | None | I |
| G/E | 0.9937 | likely_pathogenic | 0.9953 | pathogenic | -1.498 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/F | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/H | 0.9941 | likely_pathogenic | 0.9959 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/I | 0.9968 | likely_pathogenic | 0.998 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/K | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/L | 0.993 | likely_pathogenic | 0.9954 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/M | 0.9947 | likely_pathogenic | 0.9966 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/N | 0.9843 | likely_pathogenic | 0.9887 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/Q | 0.9928 | likely_pathogenic | 0.9946 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/R | 0.9945 | likely_pathogenic | 0.9959 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.916 | deleterious | D | 0.539228172 | None | None | I |
| G/S | 0.2385 | likely_benign | 0.2745 | benign | -1.254 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.452779459 | None | None | I |
| G/T | 0.8877 | likely_pathogenic | 0.9202 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/V | 0.9903 | likely_pathogenic | 0.9937 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.551002551 | None | None | I |
| G/W | 0.9945 | likely_pathogenic | 0.9957 | pathogenic | -1.381 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/Y | 0.9966 | likely_pathogenic | 0.9976 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
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.