Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16485 | 49678;49679;49680 | chr2:178613830;178613829;178613828 | chr2:179478557;179478556;179478555 |
| N2AB | 14844 | 44755;44756;44757 | chr2:178613830;178613829;178613828 | chr2:179478557;179478556;179478555 |
| N2A | 13917 | 41974;41975;41976 | chr2:178613830;178613829;178613828 | chr2:179478557;179478556;179478555 |
| N2B | 7420 | 22483;22484;22485 | chr2:178613830;178613829;178613828 | chr2:179478557;179478556;179478555 |
| Novex-1 | 7545 | 22858;22859;22860 | chr2:178613830;178613829;178613828 | chr2:179478557;179478556;179478555 |
| Novex-2 | 7612 | 23059;23060;23061 | chr2:178613830;178613829;178613828 | chr2:179478557;179478556;179478555 |
| 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 | rs1273890104  |
-1.778 | 1.0 | D | 0.875 | 0.834 | 0.899594542065 | 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/C | rs1273890104 |
-1.778 | 1.0 | D | 0.875 | 0.834 | 0.899594542065 | gnomAD-4.0.0 | 1.59377E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86329E-06 | 0 | 0 |
| Y/H | rs1362326640 |
-2.723 | 1.0 | D | 0.821 | 0.813 | 0.796385005782 | 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 | rs1362326640 |
-2.723 | 1.0 | D | 0.821 | 0.813 | 0.796385005782 | gnomAD-4.0.0 | 1.36933E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79992E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -3.765 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| Y/C | 0.9538 | likely_pathogenic | 0.9654 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.830004261 | None | None | N |
| Y/D | 0.998 | likely_pathogenic | 0.9989 | pathogenic | -3.959 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.829636739 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.752 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| Y/F | 0.3162 | likely_benign | 0.282 | benign | -1.577 | Destabilizing | 0.999 | D | 0.644 | neutral | D | 0.616723096 | None | None | N |
| Y/G | 0.9939 | likely_pathogenic | 0.9952 | pathogenic | -4.151 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| Y/H | 0.9899 | likely_pathogenic | 0.99 | pathogenic | -2.73 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.797233082 | None | None | N |
| Y/I | 0.9852 | likely_pathogenic | 0.987 | pathogenic | -2.44 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| Y/K | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.652 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/L | 0.9722 | likely_pathogenic | 0.9742 | pathogenic | -2.44 | Highly Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| Y/M | 0.992 | likely_pathogenic | 0.9929 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/N | 0.9857 | likely_pathogenic | 0.9892 | pathogenic | -3.4 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.830004261 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.902 | Highly Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | None | None | N |
| Y/Q | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.167 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/R | 0.9965 | likely_pathogenic | 0.9967 | pathogenic | -2.33 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/S | 0.993 | likely_pathogenic | 0.9945 | pathogenic | -3.714 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.830004261 | None | None | N |
| Y/T | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -3.398 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| Y/V | 0.9782 | likely_pathogenic | 0.9803 | pathogenic | -2.902 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| Y/W | 0.9026 | likely_pathogenic | 0.8953 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.801 | 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.