Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32587 | 97984;97985;97986 | chr2:178541318;178541317;178541316 | chr2:179406045;179406044;179406043 |
| N2AB | 30946 | 93061;93062;93063 | chr2:178541318;178541317;178541316 | chr2:179406045;179406044;179406043 |
| N2A | 30019 | 90280;90281;90282 | chr2:178541318;178541317;178541316 | chr2:179406045;179406044;179406043 |
| N2B | 23522 | 70789;70790;70791 | chr2:178541318;178541317;178541316 | chr2:179406045;179406044;179406043 |
| Novex-1 | 23647 | 71164;71165;71166 | chr2:178541318;178541317;178541316 | chr2:179406045;179406044;179406043 |
| Novex-2 | 23714 | 71365;71366;71367 | chr2:178541318;178541317;178541316 | chr2:179406045;179406044;179406043 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1248688465  |
-0.576 | 1.0 | N | 0.584 | 0.245 | 0.516050471323 | gnomAD-2.1.1 | 1.75E-05 | None | None | None | None | I | None | 0 | 1.1869E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/C | rs1248688465 |
-0.576 | 1.0 | N | 0.584 | 0.245 | 0.516050471323 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs1248688465 |
-0.576 | 1.0 | N | 0.584 | 0.245 | 0.516050471323 | gnomAD-4.0.0 | 5.16578E-06 | None | None | None | None | I | None | 0 | 7.72798E-05 | None | 0 | 0 | None | 0 | 0 | 3.5033E-06 | 0 | 0 |
| R/G | rs1248688465 |
None | 0.872 | N | 0.548 | 0.175 | 0.415438038341 | gnomAD-4.0.0 | 7.16145E-07 | None | None | None | None | I | None | 0 | 2.74288E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | None | -1.388 | 0.998 | N | 0.505 | 0.212 | None | gnomAD-2.1.1 | 1.97795E-03 | None | None | None | None | I | None | 4.01946E-03 | 1.50859E-03 | None | 3.44195E-04 | 0 | None | 2.17202E-04 | None | 6.28748E-04 | 2.98324E-03 | 1.93254E-03 |
| R/H | None | -1.388 | 0.998 | N | 0.505 | 0.212 | None | gnomAD-3.1.2 | 3.02369E-03 | None | None | None | None | I | None | 4.46709E-03 | 2.03039E-03 | 0 | 2.88351E-04 | 0 | None | 4.70898E-04 | 0 | 3.41036E-03 | 0 | 2.87081E-03 |
| R/H | None | -1.388 | 0.998 | N | 0.505 | 0.212 | None | 1000 genomes | 1.59744E-03 | None | None | None | None | I | None | 3E-03 | 1.4E-03 | None | None | 0 | 3E-03 | None | None | None | 0 | None |
| R/H | None | -1.388 | 0.998 | N | 0.505 | 0.212 | None | gnomAD-4.0.0 | 2.72387E-03 | None | None | None | None | I | None | 4.542E-03 | 2.09774E-03 | None | 1.41753E-04 | 0 | None | 8.74761E-04 | 1.0118E-03 | 3.11907E-03 | 2.28816E-04 | 2.15143E-03 |
| R/P | rs55704830 |
-0.217 | 0.99 | N | 0.575 | 0.271 | None | gnomAD-2.1.1 | 5.87361E-04 | None | None | None | None | I | None | 5.60609E-03 | 3.48136E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.21E-05 | 1.75685E-04 |
| R/P | rs55704830 |
-0.217 | 0.99 | N | 0.575 | 0.271 | None | gnomAD-3.1.2 | 1.78792E-03 | None | None | None | None | I | None | 6.20563E-03 | 7.20461E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.91388E-03 |
| R/P | rs55704830 |
-0.217 | 0.99 | N | 0.575 | 0.271 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | I | None | 4.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/P | rs55704830 |
-0.217 | 0.99 | N | 0.575 | 0.271 | None | gnomAD-4.0.0 | 3.40803E-04 | None | None | None | None | I | None | 6.39965E-03 | 5.04992E-04 | None | 0 | 0 | None | 0 | 0 | 8.76624E-07 | 1.2043E-05 | 4.503E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1975 | likely_benign | 0.2237 | benign | -0.021 | Destabilizing | 0.038 | N | 0.334 | neutral | None | None | None | None | I |
| R/C | 0.1245 | likely_benign | 0.135 | benign | -0.254 | Destabilizing | 1.0 | D | 0.584 | neutral | N | 0.506952299 | None | None | I |
| R/D | 0.4108 | ambiguous | 0.4593 | ambiguous | -0.237 | Destabilizing | 0.78 | D | 0.56 | neutral | None | None | None | None | I |
| R/E | 0.2323 | likely_benign | 0.2629 | benign | -0.205 | Destabilizing | 0.038 | N | 0.257 | neutral | None | None | None | None | I |
| R/F | 0.2897 | likely_benign | 0.3148 | benign | -0.37 | Destabilizing | 0.994 | D | 0.575 | neutral | None | None | None | None | I |
| R/G | 0.1495 | likely_benign | 0.1696 | benign | -0.146 | Destabilizing | 0.872 | D | 0.548 | neutral | N | 0.452117737 | None | None | I |
| R/H | 0.0855 | likely_benign | 0.0911 | benign | -0.625 | Destabilizing | 0.998 | D | 0.505 | neutral | N | 0.466028397 | None | None | I |
| R/I | 0.1435 | likely_benign | 0.1626 | benign | 0.262 | Stabilizing | 0.981 | D | 0.567 | neutral | None | None | None | None | I |
| R/K | 0.0776 | likely_benign | 0.0817 | benign | -0.176 | Destabilizing | 0.745 | D | 0.519 | neutral | None | None | None | None | I |
| R/L | 0.1215 | likely_benign | 0.1355 | benign | 0.262 | Stabilizing | 0.931 | D | 0.571 | neutral | N | 0.389375767 | None | None | I |
| R/M | 0.1628 | likely_benign | 0.1888 | benign | -0.089 | Destabilizing | 0.994 | D | 0.531 | neutral | None | None | None | None | I |
| R/N | 0.3212 | likely_benign | 0.3695 | ambiguous | -0.048 | Destabilizing | 0.935 | D | 0.481 | neutral | None | None | None | None | I |
| R/P | 0.2117 | likely_benign | 0.2177 | benign | 0.185 | Stabilizing | 0.99 | D | 0.575 | neutral | N | 0.408788247 | None | None | I |
| R/Q | 0.0845 | likely_benign | 0.0879 | benign | -0.108 | Destabilizing | 0.876 | D | 0.45 | neutral | None | None | None | None | I |
| R/S | 0.2609 | likely_benign | 0.2941 | benign | -0.262 | Destabilizing | 0.737 | D | 0.489 | neutral | N | 0.414714142 | None | None | I |
| R/T | 0.1589 | likely_benign | 0.1852 | benign | -0.13 | Destabilizing | 0.876 | D | 0.554 | neutral | None | None | None | None | I |
| R/V | 0.1841 | likely_benign | 0.2115 | benign | 0.185 | Stabilizing | 0.876 | D | 0.558 | neutral | None | None | None | None | I |
| R/W | 0.1171 | likely_benign | 0.1286 | benign | -0.542 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | I |
| R/Y | 0.2064 | likely_benign | 0.2294 | benign | -0.14 | Destabilizing | 0.994 | D | 0.58 | neutral | 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.