Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1581 | 4966;4967;4968 | chr2:178777222;178777221;178777220 | chr2:179641949;179641948;179641947 |
| N2AB | 1581 | 4966;4967;4968 | chr2:178777222;178777221;178777220 | chr2:179641949;179641948;179641947 |
| N2A | 1581 | 4966;4967;4968 | chr2:178777222;178777221;178777220 | chr2:179641949;179641948;179641947 |
| N2B | 1535 | 4828;4829;4830 | chr2:178777222;178777221;178777220 | chr2:179641949;179641948;179641947 |
| Novex-1 | 1535 | 4828;4829;4830 | chr2:178777222;178777221;178777220 | chr2:179641949;179641948;179641947 |
| Novex-2 | 1535 | 4828;4829;4830 | chr2:178777222;178777221;178777220 | chr2:179641949;179641948;179641947 |
| Novex-3 | 1581 | 4966;4967;4968 | chr2:178777222;178777221;178777220 | chr2:179641949;179641948;179641947 |
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/V | None | None | 1.0 | D | 0.817 | 0.802 | 0.790211260466 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9549 | likely_pathogenic | 0.8914 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.635585961 | None | None | I |
| G/C | 0.9951 | likely_pathogenic | 0.987 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.739111993 | None | None | I |
| G/D | 0.9985 | likely_pathogenic | 0.9967 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.796765084 | None | None | I |
| G/E | 0.999 | likely_pathogenic | 0.9974 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/F | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.9998 | likely_pathogenic | 0.9994 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/I | 0.9992 | likely_pathogenic | 0.9979 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/K | 0.9997 | likely_pathogenic | 0.9992 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/L | 0.9991 | likely_pathogenic | 0.9979 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.9996 | likely_pathogenic | 0.9991 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/N | 0.9991 | likely_pathogenic | 0.9979 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/Q | 0.9993 | likely_pathogenic | 0.9984 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/R | 0.9986 | likely_pathogenic | 0.9969 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.795928919 | None | None | I |
| G/S | 0.9676 | likely_pathogenic | 0.9228 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.702947108 | None | None | I |
| G/T | 0.9967 | likely_pathogenic | 0.9916 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/V | 0.9976 | likely_pathogenic | 0.9941 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.739259497 | None | None | I |
| G/W | 0.9991 | likely_pathogenic | 0.9981 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9996 | likely_pathogenic | 0.999 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.785 | 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.