Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32490 | 97693;97694;97695 | chr2:178542288;178542287;178542286 | chr2:179407015;179407014;179407013 |
| N2AB | 30849 | 92770;92771;92772 | chr2:178542288;178542287;178542286 | chr2:179407015;179407014;179407013 |
| N2A | 29922 | 89989;89990;89991 | chr2:178542288;178542287;178542286 | chr2:179407015;179407014;179407013 |
| N2B | 23425 | 70498;70499;70500 | chr2:178542288;178542287;178542286 | chr2:179407015;179407014;179407013 |
| Novex-1 | 23550 | 70873;70874;70875 | chr2:178542288;178542287;178542286 | chr2:179407015;179407014;179407013 |
| Novex-2 | 23617 | 71074;71075;71076 | chr2:178542288;178542287;178542286 | chr2:179407015;179407014;179407013 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs935193898  |
-0.289 | 0.022 | N | 0.156 | 0.066 | 0.194818534648 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs935193898 |
-0.289 | 0.022 | N | 0.156 | 0.066 | 0.194818534648 | gnomAD-4.0.0 | 4.11265E-06 | None | None | None | None | N | None | 0 | 2.24891E-05 | None | 0 | 0 | None | 0 | 0 | 4.50198E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2177 | likely_benign | 0.1881 | benign | -0.842 | Destabilizing | 0.877 | D | 0.567 | neutral | N | 0.395832019 | None | None | N |
| V/C | 0.7644 | likely_pathogenic | 0.712 | pathogenic | -0.743 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| V/D | 0.442 | ambiguous | 0.3922 | ambiguous | -0.6 | Destabilizing | 0.994 | D | 0.851 | deleterious | N | 0.454322962 | None | None | N |
| V/E | 0.3179 | likely_benign | 0.2907 | benign | -0.686 | Destabilizing | 0.995 | D | 0.852 | deleterious | None | None | None | None | N |
| V/F | 0.3083 | likely_benign | 0.2557 | benign | -0.828 | Destabilizing | 0.961 | D | 0.785 | deleterious | N | 0.472735364 | None | None | N |
| V/G | 0.2947 | likely_benign | 0.242 | benign | -1.032 | Destabilizing | 0.994 | D | 0.859 | deleterious | N | 0.465366675 | None | None | N |
| V/H | 0.7069 | likely_pathogenic | 0.6436 | pathogenic | -0.491 | Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| V/I | 0.0713 | likely_benign | 0.0687 | benign | -0.47 | Destabilizing | 0.022 | N | 0.156 | neutral | N | 0.42357598 | None | None | N |
| V/K | 0.4468 | ambiguous | 0.4115 | ambiguous | -0.782 | Destabilizing | 0.985 | D | 0.852 | deleterious | None | None | None | None | N |
| V/L | 0.2411 | likely_benign | 0.2087 | benign | -0.47 | Destabilizing | 0.595 | D | 0.445 | neutral | N | 0.426712286 | None | None | N |
| V/M | 0.1691 | likely_benign | 0.1425 | benign | -0.452 | Destabilizing | 0.971 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/N | 0.2528 | likely_benign | 0.2295 | benign | -0.536 | Destabilizing | 0.995 | D | 0.853 | deleterious | None | None | None | None | N |
| V/P | 0.2803 | likely_benign | 0.2749 | benign | -0.558 | Destabilizing | 0.995 | D | 0.859 | deleterious | None | None | None | None | N |
| V/Q | 0.434 | ambiguous | 0.3864 | ambiguous | -0.78 | Destabilizing | 0.995 | D | 0.869 | deleterious | None | None | None | None | N |
| V/R | 0.4647 | ambiguous | 0.4129 | ambiguous | -0.192 | Destabilizing | 0.995 | D | 0.862 | deleterious | None | None | None | None | N |
| V/S | 0.2791 | likely_benign | 0.2376 | benign | -0.939 | Destabilizing | 0.985 | D | 0.857 | deleterious | None | None | None | None | N |
| V/T | 0.2131 | likely_benign | 0.193 | benign | -0.924 | Destabilizing | 0.904 | D | 0.619 | neutral | None | None | None | None | N |
| V/W | 0.8997 | likely_pathogenic | 0.8501 | pathogenic | -0.909 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| V/Y | 0.6704 | likely_pathogenic | 0.5872 | pathogenic | -0.637 | Destabilizing | 0.995 | D | 0.787 | 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.