Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23325 | 70198;70199;70200 | chr2:178576159;178576158;178576157 | chr2:179440886;179440885;179440884 |
| N2AB | 21684 | 65275;65276;65277 | chr2:178576159;178576158;178576157 | chr2:179440886;179440885;179440884 |
| N2A | 20757 | 62494;62495;62496 | chr2:178576159;178576158;178576157 | chr2:179440886;179440885;179440884 |
| N2B | 14260 | 43003;43004;43005 | chr2:178576159;178576158;178576157 | chr2:179440886;179440885;179440884 |
| Novex-1 | 14385 | 43378;43379;43380 | chr2:178576159;178576158;178576157 | chr2:179440886;179440885;179440884 |
| Novex-2 | 14452 | 43579;43580;43581 | chr2:178576159;178576158;178576157 | chr2:179440886;179440885;179440884 |
| 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/R | rs371871513  |
-0.856 | 0.997 | D | 0.919 | 0.58 | 0.681910643822 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs371871513 |
-0.856 | 0.997 | D | 0.919 | 0.58 | 0.681910643822 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs371871513 |
-0.856 | 0.997 | D | 0.919 | 0.58 | 0.681910643822 | gnomAD-4.0.0 | 3.84632E-06 | None | None | None | None | I | None | 5.07546E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 0.997 | D | 0.915 | 0.582 | 0.773170903684 | gnomAD-4.0.0 | 1.59281E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43484E-05 | 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 | 0.7025 | likely_pathogenic | 0.7178 | pathogenic | -0.873 | Destabilizing | 0.983 | D | 0.707 | prob.neutral | D | 0.522907889 | None | None | I |
| G/C | 0.9225 | likely_pathogenic | 0.9246 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/D | 0.9802 | likely_pathogenic | 0.9802 | pathogenic | -1.611 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | I |
| G/E | 0.9874 | likely_pathogenic | 0.988 | pathogenic | -1.675 | Destabilizing | 0.997 | D | 0.921 | deleterious | D | 0.534771174 | None | None | I |
| G/F | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | I |
| G/H | 0.9928 | likely_pathogenic | 0.9926 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/I | 0.996 | likely_pathogenic | 0.9956 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | I |
| G/K | 0.9963 | likely_pathogenic | 0.9959 | pathogenic | -1.353 | Destabilizing | 0.998 | D | 0.923 | deleterious | None | None | None | None | I |
| G/L | 0.9923 | likely_pathogenic | 0.9919 | pathogenic | -0.545 | Destabilizing | 0.998 | D | 0.918 | deleterious | None | None | None | None | I |
| G/M | 0.9935 | likely_pathogenic | 0.9933 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/N | 0.9814 | likely_pathogenic | 0.9819 | pathogenic | -1.061 | Destabilizing | 0.998 | D | 0.831 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.616 | Destabilizing | 0.999 | D | 0.916 | deleterious | None | None | None | None | I |
| G/Q | 0.99 | likely_pathogenic | 0.9903 | pathogenic | -1.303 | Destabilizing | 0.999 | D | 0.915 | deleterious | None | None | None | None | I |
| G/R | 0.9889 | likely_pathogenic | 0.9883 | pathogenic | -0.972 | Destabilizing | 0.997 | D | 0.919 | deleterious | D | 0.535278153 | None | None | I |
| G/S | 0.279 | likely_benign | 0.2966 | benign | -1.277 | Destabilizing | 0.823 | D | 0.653 | neutral | None | None | None | None | I |
| G/T | 0.9037 | likely_pathogenic | 0.9118 | pathogenic | -1.279 | Destabilizing | 0.996 | D | 0.906 | deleterious | None | None | None | None | I |
| G/V | 0.9891 | likely_pathogenic | 0.9885 | pathogenic | -0.616 | Destabilizing | 0.997 | D | 0.915 | deleterious | D | 0.535531642 | None | None | I |
| G/W | 0.9919 | likely_pathogenic | 0.9911 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.536038621 | None | None | I |
| G/Y | 0.9959 | likely_pathogenic | 0.9956 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
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.