Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 19209 | 57850;57851;57852 | chr2:178595729;178595728;178595727 | chr2:179460456;179460455;179460454 |
N2AB | 17568 | 52927;52928;52929 | chr2:178595729;178595728;178595727 | chr2:179460456;179460455;179460454 |
N2A | 16641 | 50146;50147;50148 | chr2:178595729;178595728;178595727 | chr2:179460456;179460455;179460454 |
N2B | 10144 | 30655;30656;30657 | chr2:178595729;178595728;178595727 | chr2:179460456;179460455;179460454 |
Novex-1 | 10269 | 31030;31031;31032 | chr2:178595729;178595728;178595727 | chr2:179460456;179460455;179460454 |
Novex-2 | 10336 | 31231;31232;31233 | chr2:178595729;178595728;178595727 | chr2:179460456;179460455;179460454 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/D | rs769829057 | -0.019 | 0.006 | N | 0.3 | 0.083 | 0.266385636622 | gnomAD-2.1.1 | 8.29E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.83E-05 | 0 |
E/D | rs769829057 | -0.019 | 0.006 | N | 0.3 | 0.083 | 0.266385636622 | gnomAD-4.0.0 | 4.80402E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30643E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.1159 | likely_benign | 0.125 | benign | -0.006 | Destabilizing | 0.822 | D | 0.599 | neutral | N | 0.465724539 | None | None | I |
E/C | 0.7624 | likely_pathogenic | 0.807 | pathogenic | -0.068 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | I |
E/D | 0.1071 | likely_benign | 0.1107 | benign | -0.26 | Destabilizing | 0.006 | N | 0.3 | neutral | N | 0.46237759 | None | None | I |
E/F | 0.6963 | likely_pathogenic | 0.7552 | pathogenic | -0.073 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | None | None | I |
E/G | 0.1602 | likely_benign | 0.183 | benign | -0.122 | Destabilizing | 0.822 | D | 0.512 | neutral | N | 0.484158371 | None | None | I |
E/H | 0.3781 | ambiguous | 0.4079 | ambiguous | 0.451 | Stabilizing | 0.998 | D | 0.668 | neutral | None | None | None | None | I |
E/I | 0.2562 | likely_benign | 0.2999 | benign | 0.239 | Stabilizing | 0.978 | D | 0.689 | prob.neutral | None | None | None | None | I |
E/K | 0.102 | likely_benign | 0.1216 | benign | 0.488 | Stabilizing | 0.822 | D | 0.626 | neutral | N | 0.432977403 | None | None | I |
E/L | 0.275 | likely_benign | 0.3209 | benign | 0.239 | Stabilizing | 0.978 | D | 0.685 | prob.neutral | None | None | None | None | I |
E/M | 0.3648 | ambiguous | 0.4131 | ambiguous | 0.075 | Stabilizing | 0.998 | D | 0.647 | neutral | None | None | None | None | I |
E/N | 0.2025 | likely_benign | 0.2228 | benign | 0.283 | Stabilizing | 0.915 | D | 0.618 | neutral | None | None | None | None | I |
E/P | 0.4225 | ambiguous | 0.4828 | ambiguous | 0.176 | Stabilizing | 0.978 | D | 0.631 | neutral | None | None | None | None | I |
E/Q | 0.1173 | likely_benign | 0.1236 | benign | 0.287 | Stabilizing | 0.942 | D | 0.607 | neutral | N | 0.48283022 | None | None | I |
E/R | 0.1855 | likely_benign | 0.212 | benign | 0.666 | Stabilizing | 0.978 | D | 0.673 | neutral | None | None | None | None | I |
E/S | 0.1562 | likely_benign | 0.1672 | benign | 0.14 | Stabilizing | 0.86 | D | 0.627 | neutral | None | None | None | None | I |
E/T | 0.1682 | likely_benign | 0.1888 | benign | 0.241 | Stabilizing | 0.956 | D | 0.565 | neutral | None | None | None | None | I |
E/V | 0.1562 | likely_benign | 0.1821 | benign | 0.176 | Stabilizing | 0.971 | D | 0.642 | neutral | N | 0.490180267 | None | None | I |
E/W | 0.8369 | likely_pathogenic | 0.8784 | pathogenic | -0.035 | Destabilizing | 0.998 | D | 0.742 | deleterious | None | None | None | None | I |
E/Y | 0.5564 | ambiguous | 0.6225 | pathogenic | 0.151 | Stabilizing | 0.998 | D | 0.635 | 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.