Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33361 | 100306;100307;100308 | chr2:178537028;178537027;178537026 | chr2:179401755;179401754;179401753 |
| N2AB | 31720 | 95383;95384;95385 | chr2:178537028;178537027;178537026 | chr2:179401755;179401754;179401753 |
| N2A | 30793 | 92602;92603;92604 | chr2:178537028;178537027;178537026 | chr2:179401755;179401754;179401753 |
| N2B | 24296 | 73111;73112;73113 | chr2:178537028;178537027;178537026 | chr2:179401755;179401754;179401753 |
| Novex-1 | 24421 | 73486;73487;73488 | chr2:178537028;178537027;178537026 | chr2:179401755;179401754;179401753 |
| Novex-2 | 24488 | 73687;73688;73689 | chr2:178537028;178537027;178537026 | chr2:179401755;179401754;179401753 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1466606975  |
-1.043 | 1.0 | N | 0.86 | 0.496 | 0.211220785272 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1466606975 |
-1.043 | 1.0 | N | 0.86 | 0.496 | 0.211220785272 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1466606975 |
-1.043 | 1.0 | N | 0.86 | 0.496 | 0.211220785272 | gnomAD-4.0.0 | 1.23987E-06 | None | None | None | None | N | None | 1.3354E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47788E-07 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.748 | 0.467 | 0.185906805712 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1679 | likely_benign | 0.1404 | benign | -0.309 | Destabilizing | 0.974 | D | 0.513 | neutral | N | 0.4528326 | None | None | N |
| G/C | 0.456 | ambiguous | 0.3868 | ambiguous | -0.337 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.489774835 | None | None | N |
| G/D | 0.7452 | likely_pathogenic | 0.7519 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.387839759 | None | None | N |
| G/E | 0.5939 | likely_pathogenic | 0.6211 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/F | 0.9184 | likely_pathogenic | 0.902 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/H | 0.8678 | likely_pathogenic | 0.8462 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/I | 0.6413 | likely_pathogenic | 0.5917 | pathogenic | 0.689 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/K | 0.833 | likely_pathogenic | 0.8246 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/L | 0.803 | likely_pathogenic | 0.7671 | pathogenic | 0.689 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/M | 0.8377 | likely_pathogenic | 0.8003 | pathogenic | 0.428 | Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/N | 0.7576 | likely_pathogenic | 0.7343 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/P | 0.8331 | likely_pathogenic | 0.8455 | pathogenic | 0.401 | Stabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/Q | 0.7271 | likely_pathogenic | 0.7192 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/R | 0.7141 | likely_pathogenic | 0.6953 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.442423605 | None | None | N |
| G/S | 0.19 | likely_benign | 0.1632 | benign | -1.056 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.388647835 | None | None | N |
| G/T | 0.4053 | ambiguous | 0.3629 | ambiguous | -0.795 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/V | 0.4763 | ambiguous | 0.4325 | ambiguous | 0.401 | Stabilizing | 1.0 | D | 0.858 | deleterious | N | 0.437633861 | None | None | N |
| G/W | 0.8459 | likely_pathogenic | 0.829 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/Y | 0.8681 | likely_pathogenic | 0.8375 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.865 | 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.