Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30297 | 91114;91115;91116 | chr2:178552011;178552010;178552009 | chr2:179416738;179416737;179416736 |
| N2AB | 28656 | 86191;86192;86193 | chr2:178552011;178552010;178552009 | chr2:179416738;179416737;179416736 |
| N2A | 27729 | 83410;83411;83412 | chr2:178552011;178552010;178552009 | chr2:179416738;179416737;179416736 |
| N2B | 21232 | 63919;63920;63921 | chr2:178552011;178552010;178552009 | chr2:179416738;179416737;179416736 |
| Novex-1 | 21357 | 64294;64295;64296 | chr2:178552011;178552010;178552009 | chr2:179416738;179416737;179416736 |
| Novex-2 | 21424 | 64495;64496;64497 | chr2:178552011;178552010;178552009 | chr2:179416738;179416737;179416736 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs774830322  |
-1.645 | 0.999 | N | 0.654 | 0.566 | 0.414670632993 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| F/L | rs774830322 |
-1.645 | 0.999 | N | 0.654 | 0.566 | 0.414670632993 | gnomAD-4.0.0 | 1.59342E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02847E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| F/C | 0.9731 | likely_pathogenic | 0.978 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.566887852 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.687 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/G | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| F/H | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -2.016 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| F/I | 0.8556 | likely_pathogenic | 0.8935 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.523456731 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| F/L | 0.9891 | likely_pathogenic | 0.9913 | pathogenic | -0.281 | Destabilizing | 0.999 | D | 0.654 | neutral | N | 0.515013715 | None | None | N |
| F/M | 0.9514 | likely_pathogenic | 0.9635 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| F/N | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.457 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/R | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| F/S | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -2.636 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.566887852 | None | None | N |
| F/T | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -2.277 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/V | 0.8932 | likely_pathogenic | 0.9201 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.51652729 | None | None | N |
| F/W | 0.9435 | likely_pathogenic | 0.936 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| F/Y | 0.7862 | likely_pathogenic | 0.7483 | pathogenic | -0.59 | Destabilizing | 0.999 | D | 0.588 | neutral | N | 0.521018104 | 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.