Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9357 | 28294;28295;28296 | chr2:178711167;178711166;178711165 | chr2:179575894;179575893;179575892 |
| N2AB | 9040 | 27343;27344;27345 | chr2:178711167;178711166;178711165 | chr2:179575894;179575893;179575892 |
| N2A | 8113 | 24562;24563;24564 | chr2:178711167;178711166;178711165 | chr2:179575894;179575893;179575892 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.625 | None | 0.52 | 0.238 | 0.290222751274 | gnomAD-4.0.0 | 6.8418E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| T/I | rs144930507  |
0.159 | 0.012 | None | 0.379 | 0.289 | None | gnomAD-2.1.1 | 5.45707E-04 | None | None | None | None | N | None | 6.11924E-03 | 1.41371E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs144930507 |
0.159 | 0.012 | None | 0.379 | 0.289 | None | gnomAD-3.1.2 | 1.80762E-03 | None | None | None | None | N | None | 5.98947E-03 | 1.50721E-03 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.91205E-03 |
| T/I | rs144930507 |
0.159 | 0.012 | None | 0.379 | 0.289 | None | 1000 genomes | 2.39617E-03 | None | None | None | None | N | None | 8.3E-03 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/I | rs144930507 |
0.159 | 0.012 | None | 0.379 | 0.289 | None | gnomAD-4.0.0 | 3.20352E-04 | None | None | None | None | N | None | 5.97317E-03 | 6.33312E-04 | None | 0 | 0 | None | 0 | 1.65071E-04 | 2.54279E-06 | 0 | 4.32097E-04 |
| T/P | None | None | 0.989 | None | 0.577 | 0.614 | 0.630113592811 | gnomAD-4.0.0 | 6.8418E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0982 | likely_benign | 0.0998 | benign | -0.952 | Destabilizing | 0.625 | D | 0.52 | neutral | None | None | None | None | N |
| T/C | 0.5159 | ambiguous | 0.4898 | ambiguous | -0.991 | Destabilizing | 0.998 | D | 0.597 | neutral | None | None | None | None | N |
| T/D | 0.655 | likely_pathogenic | 0.6599 | pathogenic | -2.039 | Highly Destabilizing | 0.991 | D | 0.582 | neutral | None | None | None | None | N |
| T/E | 0.4097 | ambiguous | 0.4261 | ambiguous | -1.894 | Destabilizing | 0.991 | D | 0.568 | neutral | None | None | None | None | N |
| T/F | 0.2229 | likely_benign | 0.2208 | benign | -0.937 | Destabilizing | 0.949 | D | 0.6 | neutral | None | None | None | None | N |
| T/G | 0.3655 | ambiguous | 0.3697 | ambiguous | -1.3 | Destabilizing | 0.971 | D | 0.565 | neutral | None | None | None | None | N |
| T/H | 0.2243 | likely_benign | 0.2374 | benign | -1.633 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| T/I | 0.1411 | likely_benign | 0.1273 | benign | -0.07 | Destabilizing | 0.012 | N | 0.379 | neutral | None | None | None | None | N |
| T/K | 0.1657 | likely_benign | 0.1898 | benign | -0.68 | Destabilizing | 0.966 | D | 0.566 | neutral | None | None | None | None | N |
| T/L | 0.1204 | likely_benign | 0.1159 | benign | -0.07 | Destabilizing | 0.525 | D | 0.486 | neutral | None | None | None | None | N |
| T/M | 0.1084 | likely_benign | 0.1045 | benign | 0.035 | Stabilizing | 0.949 | D | 0.603 | neutral | None | None | None | None | N |
| T/N | 0.1784 | likely_benign | 0.178 | benign | -1.38 | Destabilizing | 0.991 | D | 0.568 | neutral | None | None | None | None | N |
| T/P | 0.7624 | likely_pathogenic | 0.7969 | pathogenic | -0.333 | Destabilizing | 0.989 | D | 0.577 | neutral | None | None | None | None | N |
| T/Q | 0.2162 | likely_benign | 0.2364 | benign | -1.312 | Destabilizing | 0.991 | D | 0.606 | neutral | None | None | None | None | N |
| T/R | 0.1223 | likely_benign | 0.1398 | benign | -0.74 | Destabilizing | 0.989 | D | 0.581 | neutral | None | None | None | None | N |
| T/S | 0.1187 | likely_benign | 0.1206 | benign | -1.428 | Destabilizing | 0.891 | D | 0.565 | neutral | None | None | None | None | N |
| T/V | 0.1178 | likely_benign | 0.1113 | benign | -0.333 | Destabilizing | 0.029 | N | 0.288 | neutral | None | None | None | None | N |
| T/W | 0.6659 | likely_pathogenic | 0.6881 | pathogenic | -1.154 | Destabilizing | 0.998 | D | 0.673 | neutral | None | None | None | None | N |
| T/Y | 0.296 | likely_benign | 0.3064 | benign | -0.727 | Destabilizing | 0.991 | D | 0.618 | neutral | 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.