Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30225 | 90898;90899;90900 | chr2:178552227;178552226;178552225 | chr2:179416954;179416953;179416952 |
| N2AB | 28584 | 85975;85976;85977 | chr2:178552227;178552226;178552225 | chr2:179416954;179416953;179416952 |
| N2A | 27657 | 83194;83195;83196 | chr2:178552227;178552226;178552225 | chr2:179416954;179416953;179416952 |
| N2B | 21160 | 63703;63704;63705 | chr2:178552227;178552226;178552225 | chr2:179416954;179416953;179416952 |
| Novex-1 | 21285 | 64078;64079;64080 | chr2:178552227;178552226;178552225 | chr2:179416954;179416953;179416952 |
| Novex-2 | 21352 | 64279;64280;64281 | chr2:178552227;178552226;178552225 | chr2:179416954;179416953;179416952 |
| 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/S | None | None | 1.0 | D | 0.8 | 0.527 | 0.516884031612 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85964E-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 | 0.8893 | likely_pathogenic | 0.8487 | pathogenic | -1.348 | Destabilizing | 0.999 | D | 0.8 | deleterious | D | 0.523946803 | None | None | N |
| P/C | 0.9899 | likely_pathogenic | 0.9847 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -3.378 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/E | 0.9984 | likely_pathogenic | 0.9974 | pathogenic | -3.323 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/G | 0.9954 | likely_pathogenic | 0.9937 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/H | 0.9978 | likely_pathogenic | 0.9966 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/I | 0.9907 | likely_pathogenic | 0.9837 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/K | 0.9986 | likely_pathogenic | 0.9979 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/L | 0.9728 | likely_pathogenic | 0.9629 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.536570556 | None | None | N |
| P/M | 0.997 | likely_pathogenic | 0.9949 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9985 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/Q | 0.9969 | likely_pathogenic | 0.9947 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.536063577 | None | None | N |
| P/R | 0.9943 | likely_pathogenic | 0.9922 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.535810087 | None | None | N |
| P/S | 0.9873 | likely_pathogenic | 0.9785 | pathogenic | -2.142 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.534796129 | None | None | N |
| P/T | 0.9846 | likely_pathogenic | 0.9725 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.517870416 | None | None | N |
| P/V | 0.9688 | likely_pathogenic | 0.9515 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.897 | 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.