Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20107 | 60544;60545;60546 | chr2:178591406;178591405;178591404 | chr2:179456133;179456132;179456131 |
| N2AB | 18466 | 55621;55622;55623 | chr2:178591406;178591405;178591404 | chr2:179456133;179456132;179456131 |
| N2A | 17539 | 52840;52841;52842 | chr2:178591406;178591405;178591404 | chr2:179456133;179456132;179456131 |
| N2B | 11042 | 33349;33350;33351 | chr2:178591406;178591405;178591404 | chr2:179456133;179456132;179456131 |
| Novex-1 | 11167 | 33724;33725;33726 | chr2:178591406;178591405;178591404 | chr2:179456133;179456132;179456131 |
| Novex-2 | 11234 | 33925;33926;33927 | chr2:178591406;178591405;178591404 | chr2:179456133;179456132;179456131 |
| 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/G | rs1250017638  |
-0.859 | 0.497 | N | 0.612 | 0.165 | 0.627816896369 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| V/G | rs1250017638 |
-0.859 | 0.497 | N | 0.612 | 0.165 | 0.627816896369 | gnomAD-4.0.0 | 1.59483E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43773E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1327 | likely_benign | 0.124 | benign | -0.821 | Destabilizing | 0.055 | N | 0.4 | neutral | N | 0.47127758 | None | None | I |
| V/C | 0.6354 | likely_pathogenic | 0.6237 | pathogenic | -0.647 | Destabilizing | 0.909 | D | 0.555 | neutral | None | None | None | None | I |
| V/D | 0.3244 | likely_benign | 0.3231 | benign | -0.431 | Destabilizing | 0.497 | N | 0.661 | neutral | N | 0.510006539 | None | None | I |
| V/E | 0.2557 | likely_benign | 0.2488 | benign | -0.521 | Destabilizing | 0.567 | D | 0.645 | neutral | None | None | None | None | I |
| V/F | 0.1406 | likely_benign | 0.1393 | benign | -0.864 | Destabilizing | 0.002 | N | 0.292 | neutral | N | 0.4850609 | None | None | I |
| V/G | 0.2224 | likely_benign | 0.2247 | benign | -1.012 | Destabilizing | 0.497 | N | 0.612 | neutral | N | 0.487516435 | None | None | I |
| V/H | 0.449 | ambiguous | 0.4193 | ambiguous | -0.607 | Destabilizing | 0.968 | D | 0.653 | neutral | None | None | None | None | I |
| V/I | 0.0671 | likely_benign | 0.0646 | benign | -0.448 | Destabilizing | 0.001 | N | 0.11 | neutral | N | 0.484516236 | None | None | I |
| V/K | 0.2403 | likely_benign | 0.2356 | benign | -0.702 | Destabilizing | 0.567 | D | 0.645 | neutral | None | None | None | None | I |
| V/L | 0.1131 | likely_benign | 0.1047 | benign | -0.448 | Destabilizing | 0.02 | N | 0.361 | neutral | N | 0.479513061 | None | None | I |
| V/M | 0.1099 | likely_benign | 0.0997 | benign | -0.38 | Destabilizing | 0.567 | D | 0.502 | neutral | None | None | None | None | I |
| V/N | 0.1932 | likely_benign | 0.1758 | benign | -0.371 | Destabilizing | 0.567 | D | 0.655 | neutral | None | None | None | None | I |
| V/P | 0.2443 | likely_benign | 0.2202 | benign | -0.536 | Destabilizing | 0.726 | D | 0.647 | neutral | None | None | None | None | I |
| V/Q | 0.2475 | likely_benign | 0.2332 | benign | -0.61 | Destabilizing | 0.726 | D | 0.649 | neutral | None | None | None | None | I |
| V/R | 0.2337 | likely_benign | 0.2384 | benign | -0.182 | Destabilizing | 0.567 | D | 0.655 | neutral | None | None | None | None | I |
| V/S | 0.165 | likely_benign | 0.1508 | benign | -0.793 | Destabilizing | 0.396 | N | 0.579 | neutral | None | None | None | None | I |
| V/T | 0.1468 | likely_benign | 0.124 | benign | -0.782 | Destabilizing | 0.001 | N | 0.163 | neutral | None | None | None | None | I |
| V/W | 0.7502 | likely_pathogenic | 0.7243 | pathogenic | -0.954 | Destabilizing | 0.968 | D | 0.683 | prob.neutral | None | None | None | None | I |
| V/Y | 0.4262 | ambiguous | 0.4064 | ambiguous | -0.671 | Destabilizing | 0.396 | N | 0.547 | 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.