Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28154 | 84685;84686;84687 | chr2:178561672;178561671;178561670 | chr2:179426399;179426398;179426397 |
| N2AB | 26513 | 79762;79763;79764 | chr2:178561672;178561671;178561670 | chr2:179426399;179426398;179426397 |
| N2A | 25586 | 76981;76982;76983 | chr2:178561672;178561671;178561670 | chr2:179426399;179426398;179426397 |
| N2B | 19089 | 57490;57491;57492 | chr2:178561672;178561671;178561670 | chr2:179426399;179426398;179426397 |
| Novex-1 | 19214 | 57865;57866;57867 | chr2:178561672;178561671;178561670 | chr2:179426399;179426398;179426397 |
| Novex-2 | 19281 | 58066;58067;58068 | chr2:178561672;178561671;178561670 | chr2:179426399;179426398;179426397 |
| 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/L | rs200350579  |
-0.004 | 0.931 | N | 0.645 | 0.322 | None | gnomAD-2.1.1 | 7.32256E-04 | None | None | None | None | I | None | 8.20283E-03 | 2.87E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 2.88184E-04 |
| P/L | rs200350579 |
-0.004 | 0.931 | N | 0.645 | 0.322 | None | gnomAD-3.1.2 | 2.17511E-03 | None | None | None | None | I | None | 7.74689E-03 | 5.23697E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.5511E-04 |
| P/L | rs200350579 |
-0.004 | 0.931 | N | 0.645 | 0.322 | 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 |
| P/L | rs200350579 |
-0.004 | 0.931 | N | 0.645 | 0.322 | None | gnomAD-4.0.0 | 3.76554E-04 | None | None | None | None | I | None | 7.67277E-03 | 2.51695E-04 | None | 0 | 0 | None | 0 | 0 | 8.50641E-07 | 0 | 2.41437E-04 |
| P/T | rs1703706765 |
None | 0.931 | N | 0.58 | 0.238 | 0.340032825777 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs1703706765 |
None | 0.931 | N | 0.58 | 0.238 | 0.340032825777 | gnomAD-4.0.0 | 1.86715E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.23844E-05 | None | 0 | 0 | 8.50561E-07 | 0 | 1.61015E-05 |
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 | 0.0804 | likely_benign | 0.0815 | benign | -0.307 | Destabilizing | 0.792 | D | 0.555 | neutral | N | 0.464991867 | None | None | I |
| P/C | 0.3592 | ambiguous | 0.385 | ambiguous | -0.572 | Destabilizing | 0.998 | D | 0.786 | deleterious | None | None | None | None | I |
| P/D | 0.7714 | likely_pathogenic | 0.8097 | pathogenic | -0.039 | Destabilizing | 0.947 | D | 0.572 | neutral | None | None | None | None | I |
| P/E | 0.3601 | ambiguous | 0.3768 | ambiguous | -0.166 | Destabilizing | 0.717 | D | 0.689 | prob.delet. | None | None | None | None | I |
| P/F | 0.5158 | ambiguous | 0.5524 | ambiguous | -0.713 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | I |
| P/G | 0.5222 | ambiguous | 0.5591 | ambiguous | -0.393 | Destabilizing | 0.947 | D | 0.537 | neutral | None | None | None | None | I |
| P/H | 0.2436 | likely_benign | 0.285 | benign | -0.032 | Destabilizing | 0.99 | D | 0.764 | deleterious | N | 0.490545769 | None | None | I |
| P/I | 0.156 | likely_benign | 0.1673 | benign | -0.242 | Destabilizing | 0.973 | D | 0.849 | deleterious | None | None | None | None | I |
| P/K | 0.2559 | likely_benign | 0.265 | benign | -0.084 | Destabilizing | 0.717 | D | 0.652 | prob.neutral | None | None | None | None | I |
| P/L | 0.1021 | likely_benign | 0.099 | benign | -0.242 | Destabilizing | 0.931 | D | 0.645 | neutral | N | 0.50947253 | None | None | I |
| P/M | 0.2468 | likely_benign | 0.2585 | benign | -0.196 | Destabilizing | 0.998 | D | 0.762 | deleterious | None | None | None | None | I |
| P/N | 0.4968 | ambiguous | 0.5609 | ambiguous | 0.113 | Stabilizing | 0.947 | D | 0.823 | deleterious | None | None | None | None | I |
| P/Q | 0.1547 | likely_benign | 0.1624 | benign | -0.157 | Destabilizing | 0.313 | N | 0.481 | neutral | None | None | None | None | I |
| P/R | 0.18 | likely_benign | 0.1908 | benign | 0.375 | Stabilizing | 0.027 | N | 0.447 | neutral | N | 0.514937064 | None | None | I |
| P/S | 0.1647 | likely_benign | 0.181 | benign | -0.254 | Destabilizing | 0.792 | D | 0.661 | prob.neutral | N | 0.46854072 | None | None | I |
| P/T | 0.1111 | likely_benign | 0.1184 | benign | -0.284 | Destabilizing | 0.931 | D | 0.58 | neutral | N | 0.477503942 | None | None | I |
| P/V | 0.1074 | likely_benign | 0.112 | benign | -0.231 | Destabilizing | 0.973 | D | 0.764 | deleterious | None | None | None | None | I |
| P/W | 0.7439 | likely_pathogenic | 0.8004 | pathogenic | -0.762 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | I |
| P/Y | 0.5164 | ambiguous | 0.5627 | ambiguous | -0.425 | Destabilizing | 0.991 | D | 0.795 | 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.