Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19416 | 58471;58472;58473 | chr2:178594147;178594146;178594145 | chr2:179458874;179458873;179458872 |
| N2AB | 17775 | 53548;53549;53550 | chr2:178594147;178594146;178594145 | chr2:179458874;179458873;179458872 |
| N2A | 16848 | 50767;50768;50769 | chr2:178594147;178594146;178594145 | chr2:179458874;179458873;179458872 |
| N2B | 10351 | 31276;31277;31278 | chr2:178594147;178594146;178594145 | chr2:179458874;179458873;179458872 |
| Novex-1 | 10476 | 31651;31652;31653 | chr2:178594147;178594146;178594145 | chr2:179458874;179458873;179458872 |
| Novex-2 | 10543 | 31852;31853;31854 | chr2:178594147;178594146;178594145 | chr2:179458874;179458873;179458872 |
| 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/R | rs1338893227  |
-0.718 | 1.0 | D | 0.848 | 0.523 | 0.704350777263 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5707 | likely_pathogenic | 0.7315 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.538018809 | None | None | N |
| P/C | 0.9683 | likely_pathogenic | 0.9845 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/D | 0.9982 | likely_pathogenic | 0.9991 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/E | 0.9941 | likely_pathogenic | 0.9971 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/F | 0.9982 | likely_pathogenic | 0.999 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/G | 0.9539 | likely_pathogenic | 0.9772 | pathogenic | -2.024 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/H | 0.996 | likely_pathogenic | 0.9979 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.562252357 | None | None | N |
| P/I | 0.9716 | likely_pathogenic | 0.9806 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/K | 0.9975 | likely_pathogenic | 0.9987 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/L | 0.9264 | likely_pathogenic | 0.9532 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.517846958 | None | None | N |
| P/M | 0.9826 | likely_pathogenic | 0.9895 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/N | 0.9971 | likely_pathogenic | 0.9985 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/Q | 0.9896 | likely_pathogenic | 0.9948 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/R | 0.992 | likely_pathogenic | 0.996 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.550389073 | None | None | N |
| P/S | 0.9649 | likely_pathogenic | 0.9848 | pathogenic | -1.774 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.549882094 | None | None | N |
| P/T | 0.9588 | likely_pathogenic | 0.9801 | pathogenic | -1.598 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.543298728 | None | None | N |
| P/V | 0.9219 | likely_pathogenic | 0.9485 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/Y | 0.9982 | likely_pathogenic | 0.9991 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.824 | 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.