Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14161 | 42706;42707;42708 | chr2:178634018;178634017;178634016 | chr2:179498745;179498744;179498743 |
| N2AB | 12520 | 37783;37784;37785 | chr2:178634018;178634017;178634016 | chr2:179498745;179498744;179498743 |
| N2A | 11593 | 35002;35003;35004 | chr2:178634018;178634017;178634016 | chr2:179498745;179498744;179498743 |
| N2B | 5096 | 15511;15512;15513 | chr2:178634018;178634017;178634016 | chr2:179498745;179498744;179498743 |
| Novex-1 | 5221 | 15886;15887;15888 | chr2:178634018;178634017;178634016 | chr2:179498745;179498744;179498743 |
| Novex-2 | 5288 | 16087;16088;16089 | chr2:178634018;178634017;178634016 | chr2:179498745;179498744;179498743 |
| 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/S | rs1270574681  |
-3.577 | 1.0 | D | 0.897 | 0.884 | 0.899310573585 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| F/S | rs1270574681 |
-3.577 | 1.0 | D | 0.897 | 0.884 | 0.899310573585 | gnomAD-4.0.0 | 1.5922E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88303E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9898 | likely_pathogenic | 0.9928 | pathogenic | -2.831 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/C | 0.9726 | likely_pathogenic | 0.9795 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.752788311 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.417 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/E | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -3.184 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| F/G | 0.9972 | likely_pathogenic | 0.998 | pathogenic | -3.296 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/H | 0.9931 | likely_pathogenic | 0.9958 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/I | 0.8672 | likely_pathogenic | 0.8789 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.697641454 | None | None | N |
| F/K | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -2.132 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/L | 0.9726 | likely_pathogenic | 0.9767 | pathogenic | -1.299 | Destabilizing | 0.999 | D | 0.652 | neutral | N | 0.503203672 | None | None | N |
| F/M | 0.9334 | likely_pathogenic | 0.9473 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| F/N | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -2.714 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| F/Q | 0.9987 | likely_pathogenic | 0.9993 | pathogenic | -2.601 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| F/R | 0.9973 | likely_pathogenic | 0.9984 | pathogenic | -1.775 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| F/S | 0.9954 | likely_pathogenic | 0.997 | pathogenic | -3.289 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.752788311 | None | None | N |
| F/T | 0.995 | likely_pathogenic | 0.9961 | pathogenic | -2.937 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| F/V | 0.8621 | likely_pathogenic | 0.8758 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.736642562 | None | None | N |
| F/W | 0.9385 | likely_pathogenic | 0.9502 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| F/Y | 0.7188 | likely_pathogenic | 0.7521 | pathogenic | -0.753 | Destabilizing | 0.999 | D | 0.643 | neutral | D | 0.752731664 | 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.