Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15293 | 46102;46103;46104 | chr2:178620733;178620732;178620731 | chr2:179485460;179485459;179485458 |
| N2AB | 13652 | 41179;41180;41181 | chr2:178620733;178620732;178620731 | chr2:179485460;179485459;179485458 |
| N2A | 12725 | 38398;38399;38400 | chr2:178620733;178620732;178620731 | chr2:179485460;179485459;179485458 |
| N2B | 6228 | 18907;18908;18909 | chr2:178620733;178620732;178620731 | chr2:179485460;179485459;179485458 |
| Novex-1 | 6353 | 19282;19283;19284 | chr2:178620733;178620732;178620731 | chr2:179485460;179485459;179485458 |
| Novex-2 | 6420 | 19483;19484;19485 | chr2:178620733;178620732;178620731 | chr2:179485460;179485459;179485458 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1453100283  |
-1.599 | 0.046 | D | 0.394 | 0.245 | 0.268211541103 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs1453100283 |
-1.599 | 0.046 | D | 0.394 | 0.245 | 0.268211541103 | gnomAD-4.0.0 | 6.84666E-07 | None | None | None | None | N | None | 0 | 2.23834E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.939 | D | 0.551 | 0.395 | 0.336400405673 | gnomAD-4.0.0 | 1.59372E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86318E-06 | 0 | 0 |
| A/V | None | None | 0.939 | D | 0.638 | 0.399 | 0.54347143358 | gnomAD-4.0.0 | 6.84666E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99957E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7675 | likely_pathogenic | 0.7799 | pathogenic | -1.29 | Destabilizing | 0.06 | N | 0.373 | neutral | None | None | None | None | N |
| A/D | 0.9755 | likely_pathogenic | 0.9718 | pathogenic | -1.767 | Destabilizing | 0.991 | D | 0.783 | deleterious | D | 0.653302027 | None | None | N |
| A/E | 0.9705 | likely_pathogenic | 0.9683 | pathogenic | -1.751 | Destabilizing | 0.993 | D | 0.759 | deleterious | None | None | None | None | N |
| A/F | 0.9565 | likely_pathogenic | 0.9508 | pathogenic | -1.194 | Destabilizing | 0.998 | D | 0.776 | deleterious | None | None | None | None | N |
| A/G | 0.2238 | likely_benign | 0.1986 | benign | -1.406 | Destabilizing | 0.046 | N | 0.394 | neutral | D | 0.523546885 | None | None | N |
| A/H | 0.9877 | likely_pathogenic | 0.986 | pathogenic | -1.577 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| A/I | 0.9048 | likely_pathogenic | 0.919 | pathogenic | -0.376 | Destabilizing | 0.993 | D | 0.763 | deleterious | None | None | None | None | N |
| A/K | 0.9881 | likely_pathogenic | 0.9855 | pathogenic | -1.269 | Destabilizing | 0.993 | D | 0.751 | deleterious | None | None | None | None | N |
| A/L | 0.8382 | likely_pathogenic | 0.8384 | pathogenic | -0.376 | Destabilizing | 0.953 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/M | 0.8805 | likely_pathogenic | 0.881 | pathogenic | -0.367 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| A/N | 0.9585 | likely_pathogenic | 0.9556 | pathogenic | -1.167 | Destabilizing | 0.986 | D | 0.777 | deleterious | None | None | None | None | N |
| A/P | 0.9859 | likely_pathogenic | 0.9835 | pathogenic | -0.574 | Destabilizing | 0.997 | D | 0.765 | deleterious | D | 0.653302027 | None | None | N |
| A/Q | 0.9606 | likely_pathogenic | 0.9564 | pathogenic | -1.294 | Destabilizing | 0.998 | D | 0.756 | deleterious | None | None | None | None | N |
| A/R | 0.9639 | likely_pathogenic | 0.9554 | pathogenic | -0.975 | Destabilizing | 0.993 | D | 0.756 | deleterious | None | None | None | None | N |
| A/S | 0.2601 | likely_benign | 0.2634 | benign | -1.559 | Destabilizing | 0.939 | D | 0.551 | neutral | D | 0.586173335 | None | None | N |
| A/T | 0.4294 | ambiguous | 0.4499 | ambiguous | -1.44 | Destabilizing | 0.969 | D | 0.643 | neutral | D | 0.609759749 | None | None | N |
| A/V | 0.6256 | likely_pathogenic | 0.6659 | pathogenic | -0.574 | Destabilizing | 0.939 | D | 0.638 | neutral | D | 0.642684199 | None | None | N |
| A/W | 0.996 | likely_pathogenic | 0.9951 | pathogenic | -1.601 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| A/Y | 0.9852 | likely_pathogenic | 0.9831 | pathogenic | -1.165 | Destabilizing | 0.998 | D | 0.781 | 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.