Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19529 | 58810;58811;58812 | chr2:178593715;178593714;178593713 | chr2:179458442;179458441;179458440 |
| N2AB | 17888 | 53887;53888;53889 | chr2:178593715;178593714;178593713 | chr2:179458442;179458441;179458440 |
| N2A | 16961 | 51106;51107;51108 | chr2:178593715;178593714;178593713 | chr2:179458442;179458441;179458440 |
| N2B | 10464 | 31615;31616;31617 | chr2:178593715;178593714;178593713 | chr2:179458442;179458441;179458440 |
| Novex-1 | 10589 | 31990;31991;31992 | chr2:178593715;178593714;178593713 | chr2:179458442;179458441;179458440 |
| Novex-2 | 10656 | 32191;32192;32193 | chr2:178593715;178593714;178593713 | chr2:179458442;179458441;179458440 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | None | None | 1.0 | N | 0.813 | 0.351 | 0.342865806769 | gnomAD-4.0.0 | 4.10625E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39751E-06 | 0 | 0 |
| P/T | rs878972430  |
-0.733 | 1.0 | N | 0.804 | 0.367 | 0.445711490874 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| P/T | rs878972430 |
-0.733 | 1.0 | N | 0.804 | 0.367 | 0.445711490874 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| P/T | rs878972430 |
-0.733 | 1.0 | N | 0.804 | 0.367 | 0.445711490874 | gnomAD-4.0.0 | 3.71945E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08655E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1076 | likely_benign | 0.1057 | benign | -0.629 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.47374659 | None | None | N |
| P/C | 0.6956 | likely_pathogenic | 0.6487 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/D | 0.7292 | likely_pathogenic | 0.7418 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/E | 0.4898 | ambiguous | 0.5126 | ambiguous | -0.737 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/F | 0.7334 | likely_pathogenic | 0.739 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| P/G | 0.4546 | ambiguous | 0.4934 | ambiguous | -0.782 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/H | 0.3901 | ambiguous | 0.4027 | ambiguous | -0.37 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| P/I | 0.3925 | ambiguous | 0.3736 | ambiguous | -0.368 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/K | 0.5211 | ambiguous | 0.576 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/L | 0.1501 | likely_benign | 0.1485 | benign | -0.368 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.439866089 | None | None | N |
| P/M | 0.3752 | ambiguous | 0.365 | ambiguous | -0.322 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| P/N | 0.4855 | ambiguous | 0.4968 | ambiguous | -0.255 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| P/Q | 0.2876 | likely_benign | 0.3145 | benign | -0.54 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.464241672 | None | None | N |
| P/R | 0.3703 | ambiguous | 0.4154 | ambiguous | -0.011 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.466935261 | None | None | N |
| P/S | 0.2324 | likely_benign | 0.2388 | benign | -0.585 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.481325923 | None | None | N |
| P/T | 0.1375 | likely_benign | 0.1333 | benign | -0.605 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.390917349 | None | None | N |
| P/V | 0.2487 | likely_benign | 0.2387 | benign | -0.42 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/W | 0.8531 | likely_pathogenic | 0.8515 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/Y | 0.6749 | likely_pathogenic | 0.6799 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.769 | 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.