Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32503 | 97732;97733;97734 | chr2:178541570;178541569;178541568 | chr2:179406297;179406296;179406295 |
| N2AB | 30862 | 92809;92810;92811 | chr2:178541570;178541569;178541568 | chr2:179406297;179406296;179406295 |
| N2A | 29935 | 90028;90029;90030 | chr2:178541570;178541569;178541568 | chr2:179406297;179406296;179406295 |
| N2B | 23438 | 70537;70538;70539 | chr2:178541570;178541569;178541568 | chr2:179406297;179406296;179406295 |
| Novex-1 | 23563 | 70912;70913;70914 | chr2:178541570;178541569;178541568 | chr2:179406297;179406296;179406295 |
| Novex-2 | 23630 | 71113;71114;71115 | chr2:178541570;178541569;178541568 | chr2:179406297;179406296;179406295 |
| 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 | rs1393832431  |
-0.623 | 1.0 | D | 0.896 | 0.74 | 0.861302271662 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.17E-06 | 0 |
| P/L | rs1393832431 |
-0.623 | 1.0 | D | 0.896 | 0.74 | 0.861302271662 | gnomAD-4.0.0 | 1.60555E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88567E-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 | 0.4938 | ambiguous | 0.4474 | ambiguous | -2.132 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.583975804 | None | None | N |
| P/C | 0.8084 | likely_pathogenic | 0.7632 | pathogenic | -2.047 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/D | 0.9953 | likely_pathogenic | 0.9956 | pathogenic | -3.349 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/E | 0.9871 | likely_pathogenic | 0.9876 | pathogenic | -3.17 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/F | 0.9968 | likely_pathogenic | 0.9966 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/G | 0.9511 | likely_pathogenic | 0.9487 | pathogenic | -2.606 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/H | 0.9865 | likely_pathogenic | 0.9875 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/I | 0.931 | likely_pathogenic | 0.9035 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/K | 0.9916 | likely_pathogenic | 0.993 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/L | 0.8036 | likely_pathogenic | 0.7846 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.648487217 | None | None | N |
| P/M | 0.9623 | likely_pathogenic | 0.9512 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/N | 0.9929 | likely_pathogenic | 0.9927 | pathogenic | -2.224 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/Q | 0.9723 | likely_pathogenic | 0.9727 | pathogenic | -2.126 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.60019697 | None | None | N |
| P/R | 0.9723 | likely_pathogenic | 0.9763 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.648689022 | None | None | N |
| P/S | 0.8972 | likely_pathogenic | 0.8823 | pathogenic | -2.696 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.616448495 | None | None | N |
| P/T | 0.7897 | likely_pathogenic | 0.7713 | pathogenic | -2.398 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.632669661 | None | None | N |
| P/V | 0.7726 | likely_pathogenic | 0.7032 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/W | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.724 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/Y | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.903 | 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.