Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 35335 | 106228;106229;106230 | chr2:178530612;178530611;178530610 | chr2:179395339;179395338;179395337 |
N2AB | 33694 | 101305;101306;101307 | chr2:178530612;178530611;178530610 | chr2:179395339;179395338;179395337 |
N2A | 32767 | 98524;98525;98526 | chr2:178530612;178530611;178530610 | chr2:179395339;179395338;179395337 |
N2B | 26270 | 79033;79034;79035 | chr2:178530612;178530611;178530610 | chr2:179395339;179395338;179395337 |
Novex-1 | 26395 | 79408;79409;79410 | chr2:178530612;178530611;178530610 | chr2:179395339;179395338;179395337 |
Novex-2 | 26462 | 79609;79610;79611 | chr2:178530612;178530611;178530610 | chr2:179395339;179395338;179395337 |
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 | rs760807951 | -0.636 | 1.0 | N | 0.583 | 0.403 | 0.410204130746 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11309E-04 | None | 0 | None | 0 | 0 | 0 |
H/R | rs760807951 | -0.636 | 1.0 | N | 0.583 | 0.403 | 0.410204130746 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
H/R | rs760807951 | -0.636 | 1.0 | N | 0.583 | 0.403 | 0.410204130746 | gnomAD-4.0.0 | 7.68423E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.21159E-04 | None | 0 | 0 | 2.39232E-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 | 0.52 | ambiguous | 0.5073 | ambiguous | -0.183 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
H/C | 0.2442 | likely_benign | 0.2375 | benign | 0.416 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
H/D | 0.3846 | ambiguous | 0.3694 | ambiguous | 0.007 | Stabilizing | 1.0 | D | 0.651 | neutral | N | 0.500560337 | None | None | N |
H/E | 0.4925 | ambiguous | 0.4864 | ambiguous | 0.072 | Stabilizing | 0.999 | D | 0.474 | neutral | None | None | None | None | N |
H/F | 0.4609 | ambiguous | 0.4729 | ambiguous | 0.766 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
H/G | 0.5466 | ambiguous | 0.515 | ambiguous | -0.517 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
H/I | 0.4491 | ambiguous | 0.4634 | ambiguous | 0.703 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
H/K | 0.4055 | ambiguous | 0.4009 | ambiguous | -0.082 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
H/L | 0.2077 | likely_benign | 0.2083 | benign | 0.703 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.498021464 | None | None | N |
H/M | 0.741 | likely_pathogenic | 0.7489 | pathogenic | 0.475 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
H/N | 0.1533 | likely_benign | 0.1542 | benign | -0.109 | Destabilizing | 0.999 | D | 0.467 | neutral | N | 0.509238535 | None | None | N |
H/P | 0.7283 | likely_pathogenic | 0.639 | pathogenic | 0.432 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.514607069 | None | None | N |
H/Q | 0.2951 | likely_benign | 0.29 | benign | 0.064 | Stabilizing | 1.0 | D | 0.623 | neutral | N | 0.513393561 | None | None | N |
H/R | 0.1626 | likely_benign | 0.1518 | benign | -0.641 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.481974576 | None | None | N |
H/S | 0.3243 | likely_benign | 0.3108 | benign | -0.128 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
H/T | 0.4371 | ambiguous | 0.4405 | ambiguous | 0.045 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
H/V | 0.4517 | ambiguous | 0.4629 | ambiguous | 0.432 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
H/W | 0.596 | likely_pathogenic | 0.5656 | pathogenic | 0.945 | Stabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
H/Y | 0.1674 | likely_benign | 0.1629 | benign | 1.129 | Stabilizing | 0.999 | D | 0.477 | neutral | N | 0.498888255 | 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.