Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 17865 | 53818;53819;53820 | chr2:178605702;178605701;178605700 | chr2:179470429;179470428;179470427 |
N2AB | 16224 | 48895;48896;48897 | chr2:178605702;178605701;178605700 | chr2:179470429;179470428;179470427 |
N2A | 15297 | 46114;46115;46116 | chr2:178605702;178605701;178605700 | chr2:179470429;179470428;179470427 |
N2B | 8800 | 26623;26624;26625 | chr2:178605702;178605701;178605700 | chr2:179470429;179470428;179470427 |
Novex-1 | 8925 | 26998;26999;27000 | chr2:178605702;178605701;178605700 | chr2:179470429;179470428;179470427 |
Novex-2 | 8992 | 27199;27200;27201 | chr2:178605702;178605701;178605700 | chr2:179470429;179470428;179470427 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/A | rs756689912 | -0.278 | 0.001 | N | 0.275 | 0.046 | 0.0297737177859 | gnomAD-2.1.1 | 4.86E-06 | None | None | None | None | N | None | 0 | 4.06E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
S/A | rs756689912 | -0.278 | 0.001 | N | 0.275 | 0.046 | 0.0297737177859 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
S/A | rs756689912 | -0.278 | 0.001 | N | 0.275 | 0.046 | 0.0297737177859 | gnomAD-4.0.0 | 6.58042E-06 | None | None | None | None | N | None | 0 | 6.55652E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
S/C | rs753095229 | -0.92 | 0.928 | N | 0.772 | 0.186 | 0.356484672536 | gnomAD-2.1.1 | 4.85E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.01E-05 | 0 |
S/C | rs753095229 | -0.92 | 0.928 | N | 0.772 | 0.186 | 0.356484672536 | gnomAD-4.0.0 | 2.16502E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.80031E-06 | 0 | 0 |
S/F | rs753095229 | None | 0.193 | N | 0.807 | 0.211 | 0.451786746415 | gnomAD-4.0.0 | 2.16502E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.20486E-05 | 0 |
S/T | rs756689912 | -0.726 | 0.09 | N | 0.636 | 0.04 | 0.0611884634855 | gnomAD-2.1.1 | 9.72E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.03E-05 | 0 |
S/T | rs756689912 | -0.726 | 0.09 | N | 0.636 | 0.04 | 0.0611884634855 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
S/T | rs756689912 | -0.726 | 0.09 | N | 0.636 | 0.04 | 0.0611884634855 | gnomAD-4.0.0 | 1.04082E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.40469E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/A | 0.0702 | likely_benign | 0.0618 | benign | -0.295 | Destabilizing | 0.001 | N | 0.275 | neutral | N | 0.372558088 | None | None | N |
S/C | 0.1241 | likely_benign | 0.1141 | benign | -0.684 | Destabilizing | 0.928 | D | 0.772 | deleterious | N | 0.482560861 | None | None | N |
S/D | 0.8617 | likely_pathogenic | 0.8283 | pathogenic | -1.83 | Destabilizing | 0.388 | N | 0.671 | neutral | None | None | None | None | N |
S/E | 0.8188 | likely_pathogenic | 0.7887 | pathogenic | -1.82 | Destabilizing | 0.388 | N | 0.661 | neutral | None | None | None | None | N |
S/F | 0.4143 | ambiguous | 0.3366 | benign | -0.758 | Destabilizing | 0.193 | N | 0.807 | deleterious | N | 0.505456363 | None | None | N |
S/G | 0.2013 | likely_benign | 0.1714 | benign | -0.496 | Destabilizing | 0.116 | N | 0.621 | neutral | None | None | None | None | N |
S/H | 0.6144 | likely_pathogenic | 0.5662 | pathogenic | -1.078 | Destabilizing | 0.69 | D | 0.781 | deleterious | None | None | None | None | N |
S/I | 0.4047 | ambiguous | 0.3206 | benign | 0.128 | Stabilizing | 0.388 | N | 0.81 | deleterious | None | None | None | None | N |
S/K | 0.9156 | likely_pathogenic | 0.8939 | pathogenic | -0.672 | Destabilizing | 0.388 | N | 0.663 | neutral | None | None | None | None | N |
S/L | 0.2545 | likely_benign | 0.2154 | benign | 0.128 | Stabilizing | 0.241 | N | 0.714 | prob.delet. | None | None | None | None | N |
S/M | 0.3718 | ambiguous | 0.3047 | benign | 0.415 | Stabilizing | 0.818 | D | 0.78 | deleterious | None | None | None | None | N |
S/N | 0.4022 | ambiguous | 0.3414 | ambiguous | -1.027 | Destabilizing | 0.563 | D | 0.689 | prob.neutral | None | None | None | None | N |
S/P | 0.1837 | likely_benign | 0.1474 | benign | 0.019 | Stabilizing | 0.001 | N | 0.433 | neutral | N | 0.362749313 | None | None | N |
S/Q | 0.6905 | likely_pathogenic | 0.6482 | pathogenic | -1.311 | Destabilizing | 0.818 | D | 0.713 | prob.delet. | None | None | None | None | N |
S/R | 0.8672 | likely_pathogenic | 0.8524 | pathogenic | -0.445 | Destabilizing | 0.69 | D | 0.799 | deleterious | None | None | None | None | N |
S/T | 0.1952 | likely_benign | 0.1564 | benign | -0.752 | Destabilizing | 0.09 | N | 0.636 | neutral | N | 0.469572921 | None | None | N |
S/V | 0.3262 | likely_benign | 0.2514 | benign | 0.019 | Stabilizing | 0.241 | N | 0.717 | prob.delet. | None | None | None | None | N |
S/W | 0.6242 | likely_pathogenic | 0.585 | pathogenic | -0.902 | Destabilizing | 0.981 | D | 0.829 | deleterious | None | None | None | None | N |
S/Y | 0.3321 | likely_benign | 0.296 | benign | -0.49 | Destabilizing | 0.003 | N | 0.481 | neutral | N | 0.472382743 | 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.