Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 22248 | 66967;66968;66969 | chr2:178581526;178581525;178581524 | chr2:179446253;179446252;179446251 |
N2AB | 20607 | 62044;62045;62046 | chr2:178581526;178581525;178581524 | chr2:179446253;179446252;179446251 |
N2A | 19680 | 59263;59264;59265 | chr2:178581526;178581525;178581524 | chr2:179446253;179446252;179446251 |
N2B | 13183 | 39772;39773;39774 | chr2:178581526;178581525;178581524 | chr2:179446253;179446252;179446251 |
Novex-1 | 13308 | 40147;40148;40149 | chr2:178581526;178581525;178581524 | chr2:179446253;179446252;179446251 |
Novex-2 | 13375 | 40348;40349;40350 | chr2:178581526;178581525;178581524 | chr2:179446253;179446252;179446251 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
D/E | rs2047745662 | None | None | N | 0.124 | 0.102 | 0.107399877778 | gnomAD-4.0.0 | 1.61291E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.05998E-05 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
D/A | 0.1732 | likely_benign | 0.1656 | benign | -0.221 | Destabilizing | 0.1 | N | 0.565 | neutral | N | 0.451590167 | None | None | I |
D/C | 0.6358 | likely_pathogenic | 0.6038 | pathogenic | -0.278 | Destabilizing | 0.96 | D | 0.757 | deleterious | None | None | None | None | I |
D/E | 0.13 | likely_benign | 0.1214 | benign | -0.054 | Destabilizing | None | N | 0.124 | neutral | N | 0.380132713 | None | None | I |
D/F | 0.7129 | likely_pathogenic | 0.689 | pathogenic | -0.262 | Destabilizing | 0.864 | D | 0.743 | deleterious | None | None | None | None | I |
D/G | 0.1289 | likely_benign | 0.1216 | benign | -0.364 | Destabilizing | None | N | 0.307 | neutral | N | 0.376169688 | None | None | I |
D/H | 0.4065 | ambiguous | 0.3982 | ambiguous | 0.179 | Stabilizing | 0.856 | D | 0.531 | neutral | D | 0.527589435 | None | None | I |
D/I | 0.504 | ambiguous | 0.4738 | ambiguous | 0.104 | Stabilizing | 0.676 | D | 0.745 | deleterious | None | None | None | None | I |
D/K | 0.4629 | ambiguous | 0.4329 | ambiguous | -0.028 | Destabilizing | 0.128 | N | 0.537 | neutral | None | None | None | None | I |
D/L | 0.426 | ambiguous | 0.4049 | ambiguous | 0.104 | Stabilizing | 0.507 | D | 0.657 | prob.neutral | None | None | None | None | I |
D/M | 0.673 | likely_pathogenic | 0.6297 | pathogenic | -0.058 | Destabilizing | 0.96 | D | 0.713 | prob.delet. | None | None | None | None | I |
D/N | 0.1455 | likely_benign | 0.136 | benign | 0.014 | Stabilizing | 0.181 | N | 0.559 | neutral | N | 0.443837475 | None | None | I |
D/P | 0.738 | likely_pathogenic | 0.7373 | pathogenic | 0.015 | Stabilizing | 0.676 | D | 0.551 | neutral | None | None | None | None | I |
D/Q | 0.3289 | likely_benign | 0.3196 | benign | 0.021 | Stabilizing | 0.34 | N | 0.453 | neutral | None | None | None | None | I |
D/R | 0.5287 | ambiguous | 0.515 | ambiguous | 0.273 | Stabilizing | 0.507 | D | 0.699 | prob.delet. | None | None | None | None | I |
D/S | 0.1522 | likely_benign | 0.1445 | benign | -0.208 | Destabilizing | 0.128 | N | 0.452 | neutral | None | None | None | None | I |
D/T | 0.2982 | likely_benign | 0.2754 | benign | -0.105 | Destabilizing | 0.227 | N | 0.564 | neutral | None | None | None | None | I |
D/V | 0.2867 | likely_benign | 0.2728 | benign | 0.015 | Stabilizing | 0.437 | N | 0.617 | neutral | N | 0.483529227 | None | None | I |
D/W | 0.9196 | likely_pathogenic | 0.9114 | pathogenic | -0.202 | Destabilizing | 0.96 | D | 0.781 | deleterious | None | None | None | None | I |
D/Y | 0.3521 | ambiguous | 0.3492 | ambiguous | -0.06 | Destabilizing | 0.828 | D | 0.735 | deleterious | D | 0.527589435 | 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.