Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 9994 | 30205;30206;30207 | chr2:178704390;178704389;178704388 | chr2:179569117;179569116;179569115 |
N2AB | 9677 | 29254;29255;29256 | chr2:178704390;178704389;178704388 | chr2:179569117;179569116;179569115 |
N2A | 8750 | 26473;26474;26475 | chr2:178704390;178704389;178704388 | chr2:179569117;179569116;179569115 |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H/R | None | None | 0.966 | None | 0.405 | 0.24 | 0.282179105231 | gnomAD-4.0.0 | 1.59216E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86067E-06 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H/A | 0.4071 | ambiguous | 0.5664 | pathogenic | 0.18 | Stabilizing | 0.525 | D | 0.429 | neutral | None | None | None | None | N |
H/C | 0.3942 | ambiguous | 0.4555 | ambiguous | 0.968 | Stabilizing | 0.998 | D | 0.563 | neutral | None | None | None | None | N |
H/D | 0.3317 | likely_benign | 0.4494 | ambiguous | 0.121 | Stabilizing | 0.801 | D | 0.418 | neutral | None | None | None | None | N |
H/E | 0.3956 | ambiguous | 0.5158 | ambiguous | 0.182 | Stabilizing | 0.842 | D | 0.347 | neutral | None | None | None | None | N |
H/F | 0.468 | ambiguous | 0.5521 | ambiguous | 1.071 | Stabilizing | 0.991 | D | 0.501 | neutral | None | None | None | None | N |
H/G | 0.4784 | ambiguous | 0.6142 | pathogenic | -0.159 | Destabilizing | 0.842 | D | 0.462 | neutral | None | None | None | None | N |
H/I | 0.4938 | ambiguous | 0.6309 | pathogenic | 1.076 | Stabilizing | 0.974 | D | 0.567 | neutral | None | None | None | None | N |
H/K | 0.2849 | likely_benign | 0.3636 | ambiguous | 0.412 | Stabilizing | 0.842 | D | 0.404 | neutral | None | None | None | None | N |
H/L | 0.1898 | likely_benign | 0.2422 | benign | 1.076 | Stabilizing | 0.801 | D | 0.5 | neutral | None | None | None | None | N |
H/M | 0.6341 | likely_pathogenic | 0.7416 | pathogenic | 0.849 | Stabilizing | 0.998 | D | 0.535 | neutral | None | None | None | None | N |
H/N | 0.1369 | likely_benign | 0.1889 | benign | 0.46 | Stabilizing | 0.801 | D | 0.368 | neutral | None | None | None | None | N |
H/P | 0.1241 | likely_benign | 0.1663 | benign | 0.803 | Stabilizing | 0.005 | N | 0.253 | neutral | None | None | None | None | N |
H/Q | 0.2412 | likely_benign | 0.3439 | ambiguous | 0.622 | Stabilizing | 0.966 | D | 0.425 | neutral | None | None | None | None | N |
H/R | 0.1269 | likely_benign | 0.1615 | benign | -0.296 | Destabilizing | 0.966 | D | 0.405 | neutral | None | None | None | None | N |
H/S | 0.3368 | likely_benign | 0.4783 | ambiguous | 0.541 | Stabilizing | 0.172 | N | 0.285 | neutral | None | None | None | None | N |
H/T | 0.4062 | ambiguous | 0.5709 | pathogenic | 0.704 | Stabilizing | 0.728 | D | 0.481 | neutral | None | None | None | None | N |
H/V | 0.433 | ambiguous | 0.5642 | pathogenic | 0.803 | Stabilizing | 0.974 | D | 0.516 | neutral | None | None | None | None | N |
H/W | 0.5922 | likely_pathogenic | 0.6485 | pathogenic | 1.163 | Stabilizing | 0.998 | D | 0.609 | neutral | None | None | None | None | N |
H/Y | 0.1603 | likely_benign | 0.1899 | benign | 1.401 | Stabilizing | 0.989 | D | 0.435 | neutral | None | None | 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.