Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3740 | 11443;11444;11445 | chr2:178756258;178756257;178756256 | chr2:179620985;179620984;179620983 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3569 | 10930;10931;10932 | chr2:178756258;178756257;178756256 | chr2:179620985;179620984;179620983 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs763042113  |
-0.86 | None | None | None | 0.125 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 2.02887E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs763042113 |
-0.86 | None | None | None | 0.125 | None | gnomAD-4.0.0 | 1.27404E-05 | None | None | None | None | I | None | 0 | 1.60066E-04 | None | 0 | 0 | None | 0 | 0 | 2.86134E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1818 | likely_benign | None | None | -1.011 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/C | 0.8051 | likely_pathogenic | None | None | -0.579 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/D | 0.2341 | likely_benign | None | None | -1.092 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/F | 0.6821 | likely_pathogenic | None | None | -0.616 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/G | 0.1683 | likely_benign | None | None | -1.335 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/H | 0.4695 | ambiguous | None | None | -0.831 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/I | 0.3153 | likely_benign | None | None | -0.137 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/K | 0.0945 | likely_benign | None | None | -0.865 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/L | 0.3957 | ambiguous | None | None | -0.137 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/M | 0.3883 | ambiguous | None | None | 0.309 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/N | 0.3154 | likely_benign | None | None | -1.203 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/P | 0.8249 | likely_pathogenic | None | None | -0.408 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Q | 0.1173 | likely_benign | None | None | -1.105 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/R | 0.1807 | likely_benign | None | None | -0.54 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/S | 0.2103 | likely_benign | None | None | -1.488 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/T | 0.2224 | likely_benign | None | None | -1.235 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/V | 0.1885 | likely_benign | None | None | -0.408 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/W | 0.837 | likely_pathogenic | None | None | -0.399 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Y | 0.5637 | ambiguous | None | None | -0.406 | Destabilizing | None | None | None | None | 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.