Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25682 | 77269;77270;77271 | chr2:178569088;178569087;178569086 | chr2:179433815;179433814;179433813 |
| N2AB | 24041 | 72346;72347;72348 | chr2:178569088;178569087;178569086 | chr2:179433815;179433814;179433813 |
| N2A | 23114 | 69565;69566;69567 | chr2:178569088;178569087;178569086 | chr2:179433815;179433814;179433813 |
| N2B | 16617 | 50074;50075;50076 | chr2:178569088;178569087;178569086 | chr2:179433815;179433814;179433813 |
| Novex-1 | 16742 | 50449;50450;50451 | chr2:178569088;178569087;178569086 | chr2:179433815;179433814;179433813 |
| Novex-2 | 16809 | 50650;50651;50652 | chr2:178569088;178569087;178569086 | chr2:179433815;179433814;179433813 |
| 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 | rs1249623896  |
-0.733 | 1.0 | D | 0.899 | 0.709 | 0.595757661845 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/D | rs1249623896 |
-0.733 | 1.0 | D | 0.899 | 0.709 | 0.595757661845 | gnomAD-4.0.0 | 6.84363E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.5208E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1331550324 |
-0.844 | 1.0 | D | 0.837 | 0.714 | 0.542987213932 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/V | None | None | 1.0 | D | 0.876 | 0.708 | 0.765016002531 | gnomAD-4.0.0 | 1.36873E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79925E-06 | 0 | 0 |
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 | 0.9218 | likely_pathogenic | 0.9348 | pathogenic | -0.772 | Destabilizing | 0.999 | D | 0.741 | deleterious | D | 0.573158957 | None | None | I |
| G/C | 0.9729 | likely_pathogenic | 0.9783 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.574426405 | None | None | I |
| G/D | 0.9903 | likely_pathogenic | 0.9917 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.551042231 | None | None | I |
| G/E | 0.9937 | likely_pathogenic | 0.9946 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/F | 0.9965 | likely_pathogenic | 0.9973 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| G/H | 0.9957 | likely_pathogenic | 0.9966 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/I | 0.9958 | likely_pathogenic | 0.9966 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/K | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/L | 0.9938 | likely_pathogenic | 0.995 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/M | 0.9969 | likely_pathogenic | 0.9976 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/N | 0.9888 | likely_pathogenic | 0.9911 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/Q | 0.9903 | likely_pathogenic | 0.9923 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/R | 0.9839 | likely_pathogenic | 0.9869 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.573665936 | None | None | I |
| G/S | 0.8641 | likely_pathogenic | 0.8869 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.554801213 | None | None | I |
| G/T | 0.9835 | likely_pathogenic | 0.9855 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | I |
| G/V | 0.9918 | likely_pathogenic | 0.9932 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.550281762 | None | None | I |
| G/W | 0.9949 | likely_pathogenic | 0.9963 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/Y | 0.9953 | likely_pathogenic | 0.9962 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.878 | 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.