Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5528 | 16807;16808;16809 | chr2:178732479;178732478;178732477 | chr2:179597206;179597205;179597204 |
| N2AB | 5211 | 15856;15857;15858 | chr2:178732479;178732478;178732477 | chr2:179597206;179597205;179597204 |
| N2A | 4284 | 13075;13076;13077 | chr2:178732479;178732478;178732477 | chr2:179597206;179597205;179597204 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs185753307  |
-0.362 | 1.0 | N | 0.709 | 0.415 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| A/T | rs185753307 |
-0.362 | 1.0 | N | 0.709 | 0.415 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/T | rs185753307 |
-0.362 | 1.0 | N | 0.709 | 0.415 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | rs185753307 |
-0.362 | 1.0 | N | 0.709 | 0.415 | None | gnomAD-4.0.0 | 1.42623E-05 | None | None | None | None | I | None | 2.66788E-05 | 3.33723E-05 | None | 6.76865E-05 | 0 | None | 1.56255E-05 | 0 | 1.35697E-05 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.676 | 0.416 | 0.501247319706 | gnomAD-4.0.0 | 1.59402E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86359E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.653 | likely_pathogenic | 0.6995 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| A/D | 0.7597 | likely_pathogenic | 0.8317 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.519146724 | None | None | I |
| A/E | 0.6682 | likely_pathogenic | 0.7418 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| A/F | 0.3532 | ambiguous | 0.4172 | ambiguous | -0.943 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| A/G | 0.2466 | likely_benign | 0.3005 | benign | -0.296 | Destabilizing | 1.0 | D | 0.603 | neutral | D | 0.530982031 | None | None | I |
| A/H | 0.7344 | likely_pathogenic | 0.7745 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| A/I | 0.3424 | ambiguous | 0.4309 | ambiguous | -0.477 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| A/K | 0.8192 | likely_pathogenic | 0.8611 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| A/L | 0.3513 | ambiguous | 0.4252 | ambiguous | -0.477 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| A/M | 0.3882 | ambiguous | 0.4684 | ambiguous | -0.66 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| A/N | 0.6378 | likely_pathogenic | 0.7205 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| A/P | 0.8708 | likely_pathogenic | 0.9092 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.534288464 | None | None | I |
| A/Q | 0.6706 | likely_pathogenic | 0.718 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| A/R | 0.6953 | likely_pathogenic | 0.7321 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| A/S | 0.1392 | likely_benign | 0.1579 | benign | -0.523 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.503609682 | None | None | I |
| A/T | 0.1772 | likely_benign | 0.2205 | benign | -0.593 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.510255499 | None | None | I |
| A/V | 0.1341 | likely_benign | 0.1606 | benign | -0.393 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.477262189 | None | None | I |
| A/W | 0.8498 | likely_pathogenic | 0.8826 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| A/Y | 0.6619 | likely_pathogenic | 0.72 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.779 | 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.