Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5510 | 16753;16754;16755 | chr2:178732533;178732532;178732531 | chr2:179597260;179597259;179597258 |
| N2AB | 5193 | 15802;15803;15804 | chr2:178732533;178732532;178732531 | chr2:179597260;179597259;179597258 |
| N2A | 4266 | 13021;13022;13023 | chr2:178732533;178732532;178732531 | chr2:179597260;179597259;179597258 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs72648939  |
-0.132 | 0.999 | N | 0.375 | 0.41 | None | gnomAD-2.1.1 | 2.21299E-03 | None | None | None | None | I | None | 5.37501E-04 | 3.11579E-04 | None | 0 | 2.91122E-02 | None | 3.26947E-04 | None | 0 | 7.83E-05 | 1.26654E-03 |
| Y/C | rs72648939 |
-0.132 | 0.999 | N | 0.375 | 0.41 | None | gnomAD-3.1.2 | 1.20257E-03 | None | None | None | None | I | None | 5.54698E-04 | 2.61952E-04 | 0 | 0 | 2.79491E-02 | None | 0 | 0 | 2.94E-05 | 4.14594E-04 | 3.34288E-03 |
| Y/C | rs72648939 |
-0.132 | 0.999 | N | 0.375 | 0.41 | None | 1000 genomes | 6.78914E-03 | None | None | None | None | I | None | 0 | 0 | None | None | 3.37E-02 | 0 | None | None | None | 0 | None |
| Y/C | rs72648939 |
-0.132 | 0.999 | N | 0.375 | 0.41 | None | gnomAD-4.0.0 | 8.30995E-04 | None | None | None | None | I | None | 4.66331E-04 | 2.8339E-04 | None | 0 | 2.19729E-02 | None | 0 | 0 | 3.39052E-05 | 3.29424E-04 | 3.74568E-03 |
| Y/F | None | None | 0.959 | N | 0.374 | 0.261 | 0.400899426204 | gnomAD-4.0.0 | 1.36852E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79897E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.4695 | ambiguous | 0.5514 | ambiguous | -1.782 | Destabilizing | 0.863 | D | 0.408 | neutral | None | None | None | None | I |
| Y/C | 0.1705 | likely_benign | 0.2424 | benign | -0.512 | Destabilizing | 0.999 | D | 0.375 | neutral | N | 0.51882081 | None | None | I |
| Y/D | 0.3381 | likely_benign | 0.4192 | ambiguous | 0.278 | Stabilizing | 0.852 | D | 0.445 | neutral | N | 0.432239189 | None | None | I |
| Y/E | 0.6234 | likely_pathogenic | 0.7041 | pathogenic | 0.336 | Stabilizing | 0.759 | D | 0.402 | neutral | None | None | None | None | I |
| Y/F | 0.0894 | likely_benign | 0.0915 | benign | -0.737 | Destabilizing | 0.959 | D | 0.374 | neutral | N | 0.421678266 | None | None | I |
| Y/G | 0.362 | ambiguous | 0.4412 | ambiguous | -2.073 | Highly Destabilizing | 0.939 | D | 0.431 | neutral | None | None | None | None | I |
| Y/H | 0.1378 | likely_benign | 0.163 | benign | -0.568 | Destabilizing | 0.035 | N | 0.217 | neutral | N | 0.464698324 | None | None | I |
| Y/I | 0.4461 | ambiguous | 0.5108 | ambiguous | -0.941 | Destabilizing | 0.997 | D | 0.398 | neutral | None | None | None | None | I |
| Y/K | 0.5293 | ambiguous | 0.6079 | pathogenic | -0.559 | Destabilizing | 0.884 | D | 0.406 | neutral | None | None | None | None | I |
| Y/L | 0.3394 | likely_benign | 0.4026 | ambiguous | -0.941 | Destabilizing | 0.939 | D | 0.379 | neutral | None | None | None | None | I |
| Y/M | 0.6039 | likely_pathogenic | 0.6549 | pathogenic | -0.628 | Destabilizing | 0.997 | D | 0.384 | neutral | None | None | None | None | I |
| Y/N | 0.1781 | likely_benign | 0.218 | benign | -0.723 | Destabilizing | 0.134 | N | 0.223 | neutral | N | 0.428449522 | None | None | I |
| Y/P | 0.5905 | likely_pathogenic | 0.6995 | pathogenic | -1.21 | Destabilizing | 0.997 | D | 0.406 | neutral | None | None | None | None | I |
| Y/Q | 0.4013 | ambiguous | 0.4792 | ambiguous | -0.662 | Destabilizing | 0.2 | N | 0.128 | neutral | None | None | None | None | I |
| Y/R | 0.3394 | likely_benign | 0.4126 | ambiguous | -0.184 | Destabilizing | 0.939 | D | 0.421 | neutral | None | None | None | None | I |
| Y/S | 0.1876 | likely_benign | 0.2366 | benign | -1.359 | Destabilizing | 0.92 | D | 0.415 | neutral | N | 0.430390962 | None | None | I |
| Y/T | 0.4291 | ambiguous | 0.5053 | ambiguous | -1.206 | Destabilizing | 0.939 | D | 0.402 | neutral | None | None | None | None | I |
| Y/V | 0.387 | ambiguous | 0.445 | ambiguous | -1.21 | Destabilizing | 0.969 | D | 0.372 | neutral | None | None | None | None | I |
| Y/W | 0.415 | ambiguous | 0.4645 | ambiguous | -0.436 | Destabilizing | 0.999 | D | 0.415 | neutral | 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.