Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25993 | 78202;78203;78204 | chr2:178568155;178568154;178568153 | chr2:179432882;179432881;179432880 |
| N2AB | 24352 | 73279;73280;73281 | chr2:178568155;178568154;178568153 | chr2:179432882;179432881;179432880 |
| N2A | 23425 | 70498;70499;70500 | chr2:178568155;178568154;178568153 | chr2:179432882;179432881;179432880 |
| N2B | 16928 | 51007;51008;51009 | chr2:178568155;178568154;178568153 | chr2:179432882;179432881;179432880 |
| Novex-1 | 17053 | 51382;51383;51384 | chr2:178568155;178568154;178568153 | chr2:179432882;179432881;179432880 |
| Novex-2 | 17120 | 51583;51584;51585 | chr2:178568155;178568154;178568153 | chr2:179432882;179432881;179432880 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs771646684  |
None | 0.999 | D | 0.889 | 0.445 | 0.604997275223 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/H | rs771646684 |
None | 0.999 | D | 0.889 | 0.445 | 0.604997275223 | gnomAD-4.0.0 | 1.23962E-06 | None | None | None | None | I | None | 2.67173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs771646684 |
-0.765 | 0.976 | N | 0.845 | 0.434 | 0.660965098231 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 7.82E-06 | 0 |
| P/L | rs771646684 |
-0.765 | 0.976 | N | 0.845 | 0.434 | 0.660965098231 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs771646684 |
-0.765 | 0.976 | N | 0.845 | 0.434 | 0.660965098231 | gnomAD-4.0.0 | 6.81791E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39092E-06 | 6.58776E-05 | 1.60154E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1053 | likely_benign | 0.1281 | benign | -1.211 | Destabilizing | 0.919 | D | 0.76 | deleterious | N | 0.458851708 | None | None | I |
| P/C | 0.5964 | likely_pathogenic | 0.6576 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| P/D | 0.949 | likely_pathogenic | 0.9595 | pathogenic | -1.188 | Destabilizing | 0.998 | D | 0.834 | deleterious | None | None | None | None | I |
| P/E | 0.7068 | likely_pathogenic | 0.752 | pathogenic | -1.261 | Destabilizing | 0.995 | D | 0.83 | deleterious | None | None | None | None | I |
| P/F | 0.722 | likely_pathogenic | 0.7807 | pathogenic | -1.287 | Destabilizing | 0.998 | D | 0.901 | deleterious | None | None | None | None | I |
| P/G | 0.72 | likely_pathogenic | 0.7781 | pathogenic | -1.426 | Destabilizing | 0.995 | D | 0.815 | deleterious | None | None | None | None | I |
| P/H | 0.5744 | likely_pathogenic | 0.6397 | pathogenic | -0.927 | Destabilizing | 0.999 | D | 0.889 | deleterious | D | 0.530813792 | None | None | I |
| P/I | 0.4192 | ambiguous | 0.5116 | ambiguous | -0.752 | Destabilizing | 0.982 | D | 0.83 | deleterious | None | None | None | None | I |
| P/K | 0.7694 | likely_pathogenic | 0.8221 | pathogenic | -0.827 | Destabilizing | 0.995 | D | 0.83 | deleterious | None | None | None | None | I |
| P/L | 0.2562 | likely_benign | 0.3391 | benign | -0.752 | Destabilizing | 0.976 | D | 0.845 | deleterious | N | 0.512456048 | None | None | I |
| P/M | 0.4172 | ambiguous | 0.4967 | ambiguous | -0.542 | Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | I |
| P/N | 0.7696 | likely_pathogenic | 0.8103 | pathogenic | -0.59 | Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | I |
| P/Q | 0.3873 | ambiguous | 0.4443 | ambiguous | -0.909 | Destabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | I |
| P/R | 0.6479 | likely_pathogenic | 0.7105 | pathogenic | -0.259 | Destabilizing | 0.994 | D | 0.883 | deleterious | N | 0.497198948 | None | None | I |
| P/S | 0.292 | likely_benign | 0.3553 | ambiguous | -1.033 | Destabilizing | 0.994 | D | 0.813 | deleterious | N | 0.520079099 | None | None | I |
| P/T | 0.2877 | likely_benign | 0.3572 | ambiguous | -1.01 | Destabilizing | 0.988 | D | 0.818 | deleterious | N | 0.475082222 | None | None | I |
| P/V | 0.32 | likely_benign | 0.4029 | ambiguous | -0.871 | Destabilizing | 0.18 | N | 0.571 | neutral | None | None | None | None | I |
| P/W | 0.9239 | likely_pathogenic | 0.9451 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| P/Y | 0.777 | likely_pathogenic | 0.8255 | pathogenic | -1.04 | Destabilizing | 0.999 | D | 0.897 | deleterious | 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.