Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7798 | 23617;23618;23619 | chr2:178720250;178720249;178720248 | chr2:179584977;179584976;179584975 |
| N2AB | 7481 | 22666;22667;22668 | chr2:178720250;178720249;178720248 | chr2:179584977;179584976;179584975 |
| N2A | 6554 | 19885;19886;19887 | chr2:178720250;178720249;178720248 | chr2:179584977;179584976;179584975 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs144032104  |
-0.459 | 0.362 | N | 0.392 | 0.076 | 0.20549828249 | gnomAD-4.0.0 | 4.1165E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40926E-06 | 0 | 0 |
| V/M | rs144032104 |
-0.449 | 0.997 | N | 0.461 | 0.176 | None | gnomAD-2.1.1 | 4.07E-05 | None | None | None | None | I | None | 1.29584E-04 | 0 | None | 0 | 0 | None | 1.33842E-04 | None | 0 | 3.6E-05 | 0 |
| V/M | rs144032104 |
-0.449 | 0.997 | N | 0.461 | 0.176 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/M | rs144032104 |
-0.449 | 0.997 | N | 0.461 | 0.176 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/M | rs144032104 |
-0.449 | 0.997 | N | 0.461 | 0.176 | None | gnomAD-4.0.0 | 1.92576E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.03872E-05 | 6.63042E-05 | 1.60488E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2353 | likely_benign | 0.2233 | benign | -1.225 | Destabilizing | 0.021 | N | 0.123 | neutral | N | 0.464161584 | None | None | I |
| V/C | 0.8393 | likely_pathogenic | 0.8048 | pathogenic | -0.782 | Destabilizing | 0.999 | D | 0.449 | neutral | None | None | None | None | I |
| V/D | 0.5501 | ambiguous | 0.509 | ambiguous | -0.959 | Destabilizing | 0.988 | D | 0.582 | neutral | None | None | None | None | I |
| V/E | 0.3362 | likely_benign | 0.3176 | benign | -0.969 | Destabilizing | 0.907 | D | 0.511 | neutral | N | 0.464922052 | None | None | I |
| V/F | 0.2452 | likely_benign | 0.208 | benign | -0.89 | Destabilizing | 0.992 | D | 0.459 | neutral | None | None | None | None | I |
| V/G | 0.2923 | likely_benign | 0.2653 | benign | -1.515 | Destabilizing | 0.921 | D | 0.483 | neutral | N | 0.486824969 | None | None | I |
| V/H | 0.6281 | likely_pathogenic | 0.5831 | pathogenic | -0.925 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | I |
| V/I | 0.0781 | likely_benign | 0.077 | benign | -0.543 | Destabilizing | 0.019 | N | 0.174 | neutral | None | None | None | None | I |
| V/K | 0.3819 | ambiguous | 0.3607 | ambiguous | -1.097 | Destabilizing | 0.966 | D | 0.512 | neutral | None | None | None | None | I |
| V/L | 0.1817 | likely_benign | 0.1703 | benign | -0.543 | Destabilizing | 0.362 | N | 0.392 | neutral | N | 0.463769164 | None | None | I |
| V/M | 0.1902 | likely_benign | 0.1773 | benign | -0.431 | Destabilizing | 0.997 | D | 0.461 | neutral | N | 0.463858869 | None | None | I |
| V/N | 0.4081 | ambiguous | 0.385 | ambiguous | -0.9 | Destabilizing | 0.807 | D | 0.587 | neutral | None | None | None | None | I |
| V/P | 0.8584 | likely_pathogenic | 0.8114 | pathogenic | -0.735 | Destabilizing | 0.894 | D | 0.563 | neutral | None | None | None | None | I |
| V/Q | 0.3127 | likely_benign | 0.299 | benign | -1.066 | Destabilizing | 0.976 | D | 0.549 | neutral | None | None | None | None | I |
| V/R | 0.3068 | likely_benign | 0.2976 | benign | -0.526 | Destabilizing | 0.992 | D | 0.583 | neutral | None | None | None | None | I |
| V/S | 0.2695 | likely_benign | 0.2591 | benign | -1.395 | Destabilizing | 0.822 | D | 0.451 | neutral | None | None | None | None | I |
| V/T | 0.2185 | likely_benign | 0.2198 | benign | -1.299 | Destabilizing | 0.048 | N | 0.111 | neutral | None | None | None | None | I |
| V/W | 0.8675 | likely_pathogenic | 0.8254 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| V/Y | 0.68 | likely_pathogenic | 0.6233 | pathogenic | -0.782 | Destabilizing | 0.997 | D | 0.447 | 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.