Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4938 | 15037;15038;15039 | chr2:178735634;178735633;178735632 | chr2:179600361;179600360;179600359 |
| N2AB | 4621 | 14086;14087;14088 | chr2:178735634;178735633;178735632 | chr2:179600361;179600360;179600359 |
| N2A | 3694 | 11305;11306;11307 | chr2:178735634;178735633;178735632 | chr2:179600361;179600360;179600359 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 1.0 | N | 0.807 | 0.553 | 0.65191413482 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79896E-06 | 0 | 0 |
| F/S | rs560537668  |
-0.656 | 1.0 | N | 0.814 | 0.545 | 0.6151583611 | gnomAD-2.1.1 | 9.26E-05 | None | None | None | None | N | None | 0 | 4.06339E-04 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 5.33E-05 | 1.66113E-04 |
| F/S | rs560537668 |
-0.656 | 1.0 | N | 0.814 | 0.545 | 0.6151583611 | gnomAD-3.1.2 | 1.18255E-04 | None | None | None | None | N | None | 0 | 9.1659E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 9.56023E-04 |
| F/S | rs560537668 |
-0.656 | 1.0 | N | 0.814 | 0.545 | 0.6151583611 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| F/S | rs560537668 |
-0.656 | 1.0 | N | 0.814 | 0.545 | 0.6151583611 | gnomAD-4.0.0 | 9.48119E-05 | None | None | None | None | N | None | 1.33245E-05 | 5.66648E-04 | None | 0 | 0 | None | 0 | 6.2727E-03 | 5.33992E-05 | 4.39194E-05 | 2.0814E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.6163 | likely_pathogenic | 0.6567 | pathogenic | -2.142 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| F/C | 0.4061 | ambiguous | 0.4647 | ambiguous | -0.938 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.50374829 | None | None | N |
| F/D | 0.8637 | likely_pathogenic | 0.8817 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| F/E | 0.8677 | likely_pathogenic | 0.8866 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/G | 0.8106 | likely_pathogenic | 0.8356 | pathogenic | -2.464 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| F/H | 0.6791 | likely_pathogenic | 0.6996 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| F/I | 0.2625 | likely_benign | 0.2996 | benign | -1.183 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.508410534 | None | None | N |
| F/K | 0.8677 | likely_pathogenic | 0.8909 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/L | 0.7789 | likely_pathogenic | 0.8125 | pathogenic | -1.183 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | N | 0.506009482 | None | None | N |
| F/M | 0.5164 | ambiguous | 0.5513 | ambiguous | -0.799 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| F/N | 0.7501 | likely_pathogenic | 0.775 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/P | 0.9707 | likely_pathogenic | 0.976 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| F/Q | 0.7947 | likely_pathogenic | 0.8206 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/R | 0.7481 | likely_pathogenic | 0.7797 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| F/S | 0.4508 | ambiguous | 0.4861 | ambiguous | -1.861 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.47456989 | None | None | N |
| F/T | 0.5082 | ambiguous | 0.5482 | ambiguous | -1.707 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| F/V | 0.2624 | likely_benign | 0.3015 | benign | -1.494 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.504819892 | None | None | N |
| F/W | 0.4876 | ambiguous | 0.5065 | ambiguous | -0.512 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| F/Y | 0.236 | likely_benign | 0.2553 | benign | -0.676 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.49849061 | 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.