Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22679 | 68260;68261;68262 | chr2:178578995;178578994;178578993 | chr2:179443722;179443721;179443720 |
| N2AB | 21038 | 63337;63338;63339 | chr2:178578995;178578994;178578993 | chr2:179443722;179443721;179443720 |
| N2A | 20111 | 60556;60557;60558 | chr2:178578995;178578994;178578993 | chr2:179443722;179443721;179443720 |
| N2B | 13614 | 41065;41066;41067 | chr2:178578995;178578994;178578993 | chr2:179443722;179443721;179443720 |
| Novex-1 | 13739 | 41440;41441;41442 | chr2:178578995;178578994;178578993 | chr2:179443722;179443721;179443720 |
| Novex-2 | 13806 | 41641;41642;41643 | chr2:178578995;178578994;178578993 | chr2:179443722;179443721;179443720 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | D | 0.879 | 0.851 | 0.837760505905 | gnomAD-4.0.0 | 6.84424E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99658E-07 | 0 | 0 |
| Y/F | rs773819237  |
-1.371 | 0.999 | D | 0.63 | 0.771 | 0.783632416491 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/F | rs773819237 |
-1.371 | 0.999 | D | 0.63 | 0.771 | 0.783632416491 | gnomAD-4.0.0 | 6.84424E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52627E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs763134196 |
-2.866 | 1.0 | D | 0.813 | 0.842 | 0.713362601676 | 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 |
| Y/H | rs763134196 |
-2.866 | 1.0 | D | 0.813 | 0.842 | 0.713362601676 | gnomAD-4.0.0 | 6.36965E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14407E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.998 | likely_pathogenic | 0.998 | pathogenic | -3.585 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| Y/C | 0.956 | likely_pathogenic | 0.9533 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.637475474 | None | None | N |
| Y/D | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -3.842 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.637879082 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.618 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/F | 0.3741 | ambiguous | 0.3615 | ambiguous | -1.431 | Destabilizing | 0.999 | D | 0.63 | neutral | D | 0.557350104 | None | None | N |
| Y/G | 0.9936 | likely_pathogenic | 0.9939 | pathogenic | -3.995 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| Y/H | 0.9863 | likely_pathogenic | 0.9857 | pathogenic | -2.731 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.637475474 | None | None | N |
| Y/I | 0.9819 | likely_pathogenic | 0.9813 | pathogenic | -2.187 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.457 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/L | 0.9588 | likely_pathogenic | 0.9593 | pathogenic | -2.187 | Highly Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9908 | likely_pathogenic | 0.9902 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/N | 0.9858 | likely_pathogenic | 0.9854 | pathogenic | -3.252 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.637879082 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.674 | Highly Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| Y/Q | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.972 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/R | 0.9968 | likely_pathogenic | 0.9967 | pathogenic | -2.272 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/S | 0.9915 | likely_pathogenic | 0.9912 | pathogenic | -3.555 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.637879082 | None | None | N |
| Y/T | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -3.207 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/V | 0.9659 | likely_pathogenic | 0.9647 | pathogenic | -2.674 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| Y/W | 0.9203 | likely_pathogenic | 0.9216 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.791 | 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.