Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19580 | 58963;58964;58965 | chr2:178593470;178593469;178593468 | chr2:179458197;179458196;179458195 |
| N2AB | 17939 | 54040;54041;54042 | chr2:178593470;178593469;178593468 | chr2:179458197;179458196;179458195 |
| N2A | 17012 | 51259;51260;51261 | chr2:178593470;178593469;178593468 | chr2:179458197;179458196;179458195 |
| N2B | 10515 | 31768;31769;31770 | chr2:178593470;178593469;178593468 | chr2:179458197;179458196;179458195 |
| Novex-1 | 10640 | 32143;32144;32145 | chr2:178593470;178593469;178593468 | chr2:179458197;179458196;179458195 |
| Novex-2 | 10707 | 32344;32345;32346 | chr2:178593470;178593469;178593468 | chr2:179458197;179458196;179458195 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.815 | 0.614 | 0.796498930371 | gnomAD-4.0.0 | 1.60459E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86707E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7574 | likely_pathogenic | 0.7677 | pathogenic | -1.824 | Destabilizing | 0.999 | D | 0.835 | deleterious | D | 0.620984605 | None | None | N |
| P/C | 0.9795 | likely_pathogenic | 0.98 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -3.523 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/E | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | -3.407 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/G | 0.9847 | likely_pathogenic | 0.9854 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/H | 0.9961 | likely_pathogenic | 0.9957 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.658968526 | None | None | N |
| P/I | 0.9904 | likely_pathogenic | 0.9898 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| P/K | 0.9976 | likely_pathogenic | 0.9976 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/L | 0.9609 | likely_pathogenic | 0.9549 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.642747361 | None | None | N |
| P/M | 0.9944 | likely_pathogenic | 0.9936 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/N | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/Q | 0.9935 | likely_pathogenic | 0.9929 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/R | 0.9904 | likely_pathogenic | 0.9906 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.642747361 | None | None | N |
| P/S | 0.9598 | likely_pathogenic | 0.9556 | pathogenic | -2.442 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.642545557 | None | None | N |
| P/T | 0.9577 | likely_pathogenic | 0.9583 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.642747361 | None | None | N |
| P/V | 0.9702 | likely_pathogenic | 0.9699 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.707 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.799 | 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.