Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33233 | 99922;99923;99924 | chr2:178537510;178537509;178537508 | chr2:179402237;179402236;179402235 |
| N2AB | 31592 | 94999;95000;95001 | chr2:178537510;178537509;178537508 | chr2:179402237;179402236;179402235 |
| N2A | 30665 | 92218;92219;92220 | chr2:178537510;178537509;178537508 | chr2:179402237;179402236;179402235 |
| N2B | 24168 | 72727;72728;72729 | chr2:178537510;178537509;178537508 | chr2:179402237;179402236;179402235 |
| Novex-1 | 24293 | 73102;73103;73104 | chr2:178537510;178537509;178537508 | chr2:179402237;179402236;179402235 |
| Novex-2 | 24360 | 73303;73304;73305 | chr2:178537510;178537509;178537508 | chr2:179402237;179402236;179402235 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1271698749  |
-0.45 | 0.134 | N | 0.533 | 0.137 | 0.107399877778 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1271698749 |
-0.45 | 0.134 | N | 0.533 | 0.137 | 0.107399877778 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76735E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1479703303 |
-0.478 | 0.995 | N | 0.737 | 0.425 | 0.561714622075 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1479703303 |
-0.478 | 0.995 | N | 0.737 | 0.425 | 0.561714622075 | gnomAD-4.0.0 | 6.84235E-07 | None | None | None | None | N | None | 0 | 2.23674E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1479703303 |
None | 0.946 | N | 0.668 | 0.331 | 0.170165803431 | gnomAD-4.0.0 | 2.73694E-06 | None | None | None | None | N | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79899E-06 | 0 | 1.65667E-05 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2504 | likely_benign | 0.2781 | benign | -0.434 | Destabilizing | 0.909 | D | 0.587 | neutral | N | 0.481914995 | None | None | N |
| G/C | 0.3304 | likely_benign | 0.3895 | ambiguous | -0.51 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | N | 0.460050661 | None | None | N |
| G/D | 0.1456 | likely_benign | 0.1529 | benign | -0.863 | Destabilizing | 0.134 | N | 0.533 | neutral | N | 0.42644014 | None | None | N |
| G/E | 0.2319 | likely_benign | 0.2051 | benign | -0.896 | Destabilizing | 0.993 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/F | 0.8169 | likely_pathogenic | 0.8541 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/H | 0.4118 | ambiguous | 0.4211 | ambiguous | -1.151 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| G/I | 0.7264 | likely_pathogenic | 0.7642 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/K | 0.4881 | ambiguous | 0.4557 | ambiguous | -1.034 | Destabilizing | 0.996 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/L | 0.692 | likely_pathogenic | 0.7211 | pathogenic | -0.009 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/M | 0.7876 | likely_pathogenic | 0.8057 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/N | 0.2188 | likely_benign | 0.206 | benign | -0.702 | Destabilizing | 0.993 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/P | 0.9671 | likely_pathogenic | 0.9637 | pathogenic | -0.108 | Destabilizing | 0.995 | D | 0.741 | deleterious | None | None | None | None | N |
| G/Q | 0.3152 | likely_benign | 0.2924 | benign | -0.819 | Destabilizing | 0.996 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/R | 0.3201 | likely_benign | 0.3213 | benign | -0.795 | Destabilizing | 0.995 | D | 0.737 | prob.delet. | N | 0.459036703 | None | None | N |
| G/S | 0.1181 | likely_benign | 0.1308 | benign | -0.942 | Destabilizing | 0.946 | D | 0.668 | neutral | N | 0.47645046 | None | None | N |
| G/T | 0.4579 | ambiguous | 0.5002 | ambiguous | -0.892 | Destabilizing | 0.996 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/V | 0.5938 | likely_pathogenic | 0.6471 | pathogenic | -0.108 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | N | 0.482608428 | None | None | N |
| G/W | 0.6833 | likely_pathogenic | 0.7365 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/Y | 0.6124 | likely_pathogenic | 0.6614 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.693 | prob.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.