Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18918 | 56977;56978;56979 | chr2:178598958;178598957;178598956 | chr2:179463685;179463684;179463683 |
| N2AB | 17277 | 52054;52055;52056 | chr2:178598958;178598957;178598956 | chr2:179463685;179463684;179463683 |
| N2A | 16350 | 49273;49274;49275 | chr2:178598958;178598957;178598956 | chr2:179463685;179463684;179463683 |
| N2B | 9853 | 29782;29783;29784 | chr2:178598958;178598957;178598956 | chr2:179463685;179463684;179463683 |
| Novex-1 | 9978 | 30157;30158;30159 | chr2:178598958;178598957;178598956 | chr2:179463685;179463684;179463683 |
| Novex-2 | 10045 | 30358;30359;30360 | chr2:178598958;178598957;178598956 | chr2:179463685;179463684;179463683 |
| 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/A | rs772925562  |
0.015 | 1.0 | N | 0.681 | 0.459 | 0.457650129517 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.03E-06 | 0 |
| G/A | rs772925562 |
0.015 | 1.0 | N | 0.681 | 0.459 | 0.457650129517 | gnomAD-4.0.0 | 2.73864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59879E-06 | 0 | 0 |
| G/W | rs762541850 |
-1.072 | 1.0 | D | 0.777 | 0.631 | 0.449669948863 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.03E-06 | 0 |
| G/W | rs762541850 |
-1.072 | 1.0 | D | 0.777 | 0.631 | 0.449669948863 | gnomAD-4.0.0 | 1.5938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86066E-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 | 0.7813 | likely_pathogenic | 0.6785 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.490049833 | None | None | N |
| G/C | 0.9411 | likely_pathogenic | 0.8956 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/D | 0.9855 | likely_pathogenic | 0.9747 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/E | 0.9887 | likely_pathogenic | 0.9828 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.48263032 | None | None | N |
| G/F | 0.996 | likely_pathogenic | 0.9937 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/H | 0.9907 | likely_pathogenic | 0.9837 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/I | 0.9954 | likely_pathogenic | 0.9914 | pathogenic | 0.326 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/K | 0.9955 | likely_pathogenic | 0.9937 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/L | 0.9936 | likely_pathogenic | 0.989 | pathogenic | 0.326 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/M | 0.9944 | likely_pathogenic | 0.9888 | pathogenic | 0.134 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/N | 0.9778 | likely_pathogenic | 0.9475 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | 0.064 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/Q | 0.9852 | likely_pathogenic | 0.9761 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/R | 0.9837 | likely_pathogenic | 0.9786 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.495125488 | None | None | N |
| G/S | 0.7662 | likely_pathogenic | 0.6232 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/T | 0.9722 | likely_pathogenic | 0.9396 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/V | 0.9891 | likely_pathogenic | 0.9797 | pathogenic | 0.064 | Stabilizing | 1.0 | D | 0.89 | deleterious | D | 0.542236231 | None | None | N |
| G/W | 0.9906 | likely_pathogenic | 0.985 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.543250189 | None | None | N |
| G/Y | 0.9884 | likely_pathogenic | 0.9813 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.843 | deleterious | 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.