Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14349 | 43270;43271;43272 | chr2:178633228;178633227;178633226 | chr2:179497955;179497954;179497953 |
| N2AB | 12708 | 38347;38348;38349 | chr2:178633228;178633227;178633226 | chr2:179497955;179497954;179497953 |
| N2A | 11781 | 35566;35567;35568 | chr2:178633228;178633227;178633226 | chr2:179497955;179497954;179497953 |
| N2B | 5284 | 16075;16076;16077 | chr2:178633228;178633227;178633226 | chr2:179497955;179497954;179497953 |
| Novex-1 | 5409 | 16450;16451;16452 | chr2:178633228;178633227;178633226 | chr2:179497955;179497954;179497953 |
| Novex-2 | 5476 | 16651;16652;16653 | chr2:178633228;178633227;178633226 | chr2:179497955;179497954;179497953 |
| 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 | rs1211758299  |
None | 0.993 | D | 0.81 | 0.333 | 0.202949470691 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1211758299 |
None | 0.993 | D | 0.81 | 0.333 | 0.202949470691 | gnomAD-4.0.0 | 6.57445E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4708E-05 | 0 | 0 |
| G/S | rs781452930 |
-0.914 | 0.982 | N | 0.579 | 0.246 | None | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | I | None | 0 | 1.16218E-04 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 2.67E-05 | 0 |
| G/S | rs781452930 |
-0.914 | 0.982 | N | 0.579 | 0.246 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 1.31062E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/S | rs781452930 |
-0.914 | 0.982 | N | 0.579 | 0.246 | None | gnomAD-4.0.0 | 3.16172E-05 | None | None | None | None | I | None | 0 | 1.1676E-04 | None | 0 | 0 | None | 0 | 0 | 3.30656E-05 | 4.39348E-05 | 1.60195E-05 |
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 | 0.1821 | likely_benign | 0.2217 | benign | -0.796 | Destabilizing | 0.058 | N | 0.323 | neutral | N | 0.432617796 | None | None | I |
| G/C | 0.5867 | likely_pathogenic | 0.6287 | pathogenic | -0.417 | Destabilizing | 0.999 | D | 0.864 | deleterious | D | 0.563725882 | None | None | I |
| G/D | 0.9656 | likely_pathogenic | 0.9657 | pathogenic | -1.705 | Destabilizing | 0.993 | D | 0.81 | deleterious | D | 0.563725882 | None | None | I |
| G/E | 0.9551 | likely_pathogenic | 0.9526 | pathogenic | -1.677 | Destabilizing | 0.989 | D | 0.835 | deleterious | None | None | None | None | I |
| G/F | 0.9689 | likely_pathogenic | 0.9692 | pathogenic | -0.988 | Destabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | I |
| G/H | 0.9765 | likely_pathogenic | 0.9726 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/I | 0.8213 | likely_pathogenic | 0.8239 | pathogenic | -0.215 | Destabilizing | 0.989 | D | 0.861 | deleterious | None | None | None | None | I |
| G/K | 0.9829 | likely_pathogenic | 0.9806 | pathogenic | -1.223 | Destabilizing | 0.989 | D | 0.844 | deleterious | None | None | None | None | I |
| G/L | 0.918 | likely_pathogenic | 0.9242 | pathogenic | -0.215 | Destabilizing | 0.989 | D | 0.835 | deleterious | None | None | None | None | I |
| G/M | 0.9557 | likely_pathogenic | 0.9545 | pathogenic | -0.074 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/N | 0.9638 | likely_pathogenic | 0.9608 | pathogenic | -0.859 | Destabilizing | 0.995 | D | 0.746 | deleterious | None | None | None | None | I |
| G/P | 0.7314 | likely_pathogenic | 0.8654 | pathogenic | -0.371 | Destabilizing | 0.159 | N | 0.599 | neutral | None | None | None | None | I |
| G/Q | 0.9647 | likely_pathogenic | 0.9592 | pathogenic | -0.953 | Destabilizing | 0.995 | D | 0.878 | deleterious | None | None | None | None | I |
| G/R | 0.9479 | likely_pathogenic | 0.9438 | pathogenic | -1.043 | Destabilizing | 0.997 | D | 0.862 | deleterious | D | 0.562335523 | None | None | I |
| G/S | 0.351 | ambiguous | 0.3654 | ambiguous | -1.027 | Destabilizing | 0.982 | D | 0.579 | neutral | N | 0.499668528 | None | None | I |
| G/T | 0.691 | likely_pathogenic | 0.6962 | pathogenic | -0.934 | Destabilizing | 0.989 | D | 0.831 | deleterious | None | None | None | None | I |
| G/V | 0.6498 | likely_pathogenic | 0.6669 | pathogenic | -0.371 | Destabilizing | 0.972 | D | 0.838 | deleterious | N | 0.418024364 | None | None | I |
| G/W | 0.9545 | likely_pathogenic | 0.9558 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/Y | 0.9691 | likely_pathogenic | 0.9679 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.863 | 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.