Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20514 | 61765;61766;61767 | chr2:178590185;178590184;178590183 | chr2:179454912;179454911;179454910 |
| N2AB | 18873 | 56842;56843;56844 | chr2:178590185;178590184;178590183 | chr2:179454912;179454911;179454910 |
| N2A | 17946 | 54061;54062;54063 | chr2:178590185;178590184;178590183 | chr2:179454912;179454911;179454910 |
| N2B | 11449 | 34570;34571;34572 | chr2:178590185;178590184;178590183 | chr2:179454912;179454911;179454910 |
| Novex-1 | 11574 | 34945;34946;34947 | chr2:178590185;178590184;178590183 | chr2:179454912;179454911;179454910 |
| Novex-2 | 11641 | 35146;35147;35148 | chr2:178590185;178590184;178590183 | chr2:179454912;179454911;179454910 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1449445104  |
-0.375 | 0.121 | N | 0.259 | 0.262 | 0.149567049428 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| G/D | rs1449445104 |
-0.375 | 0.121 | N | 0.259 | 0.262 | 0.149567049428 | gnomAD-4.0.0 | 1.5982E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86822E-06 | 0 | 0 |
| G/S | rs769107925 |
-0.536 | 0.978 | N | 0.336 | 0.432 | 0.222439326576 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| G/S | rs769107925 |
-0.536 | 0.978 | N | 0.336 | 0.432 | 0.222439326576 | gnomAD-4.0.0 | 1.59831E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86837E-06 | 0 | 0 |
| G/V | rs1449445104 |
-0.16 | 0.997 | N | 0.612 | 0.464 | 0.719121032051 | gnomAD-2.1.1 | 8.14E-06 | None | None | None | None | I | None | 0 | 0 | None | 1.02082E-04 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| G/V | rs1449445104 |
-0.16 | 0.997 | N | 0.612 | 0.464 | 0.719121032051 | gnomAD-4.0.0 | 3.19641E-06 | None | None | None | None | I | None | 0 | 0 | None | 4.81974E-05 | 0 | None | 0 | 0 | 2.86822E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2981 | likely_benign | 0.2907 | benign | -0.168 | Destabilizing | 0.978 | D | 0.337 | neutral | N | 0.466454033 | None | None | I |
| G/C | 0.4311 | ambiguous | 0.4472 | ambiguous | -0.898 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.514045301 | None | None | I |
| G/D | 0.2154 | likely_benign | 0.2317 | benign | -0.495 | Destabilizing | 0.121 | N | 0.259 | neutral | N | 0.504277354 | None | None | I |
| G/E | 0.2643 | likely_benign | 0.2936 | benign | -0.654 | Destabilizing | 0.437 | N | 0.341 | neutral | None | None | None | None | I |
| G/F | 0.8697 | likely_pathogenic | 0.8731 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.606 | neutral | None | None | None | None | I |
| G/H | 0.6135 | likely_pathogenic | 0.6175 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.496 | neutral | None | None | None | None | I |
| G/I | 0.7273 | likely_pathogenic | 0.7355 | pathogenic | -0.379 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | I |
| G/K | 0.6883 | likely_pathogenic | 0.7131 | pathogenic | -0.697 | Destabilizing | 0.983 | D | 0.441 | neutral | None | None | None | None | I |
| G/L | 0.7516 | likely_pathogenic | 0.7507 | pathogenic | -0.379 | Destabilizing | 0.998 | D | 0.608 | neutral | None | None | None | None | I |
| G/M | 0.7194 | likely_pathogenic | 0.7101 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.61 | neutral | None | None | None | None | I |
| G/N | 0.2212 | likely_benign | 0.2226 | benign | -0.368 | Destabilizing | 0.995 | D | 0.365 | neutral | None | None | None | None | I |
| G/P | 0.9594 | likely_pathogenic | 0.9623 | pathogenic | -0.28 | Destabilizing | 0.999 | D | 0.514 | neutral | None | None | None | None | I |
| G/Q | 0.4483 | ambiguous | 0.4543 | ambiguous | -0.628 | Destabilizing | 0.995 | D | 0.507 | neutral | None | None | None | None | I |
| G/R | 0.6184 | likely_pathogenic | 0.6442 | pathogenic | -0.278 | Destabilizing | 0.994 | D | 0.514 | neutral | N | 0.48200062 | None | None | I |
| G/S | 0.1486 | likely_benign | 0.1439 | benign | -0.514 | Destabilizing | 0.978 | D | 0.336 | neutral | N | 0.470035204 | None | None | I |
| G/T | 0.3491 | ambiguous | 0.3431 | ambiguous | -0.604 | Destabilizing | 0.998 | D | 0.458 | neutral | None | None | None | None | I |
| G/V | 0.5812 | likely_pathogenic | 0.5841 | pathogenic | -0.28 | Destabilizing | 0.997 | D | 0.612 | neutral | N | 0.507461936 | None | None | I |
| G/W | 0.7178 | likely_pathogenic | 0.7233 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | I |
| G/Y | 0.6952 | likely_pathogenic | 0.7131 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.603 | 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.