Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16159 | 48700;48701;48702 | chr2:178615470;178615469;178615468 | chr2:179480197;179480196;179480195 |
| N2AB | 14518 | 43777;43778;43779 | chr2:178615470;178615469;178615468 | chr2:179480197;179480196;179480195 |
| N2A | 13591 | 40996;40997;40998 | chr2:178615470;178615469;178615468 | chr2:179480197;179480196;179480195 |
| N2B | 7094 | 21505;21506;21507 | chr2:178615470;178615469;178615468 | chr2:179480197;179480196;179480195 |
| Novex-1 | 7219 | 21880;21881;21882 | chr2:178615470;178615469;178615468 | chr2:179480197;179480196;179480195 |
| Novex-2 | 7286 | 22081;22082;22083 | chr2:178615470;178615469;178615468 | chr2:179480197;179480196;179480195 |
| 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 | rs1238178074  |
None | 1.0 | D | 0.906 | 0.724 | 0.786332706246 | gnomAD-4.0.0 | 1.36985E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32288E-05 | 0 |
| P/R | rs1238178074 |
-1.646 | 1.0 | D | 0.934 | 0.772 | 0.699609318542 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1238178074 |
-1.646 | 1.0 | D | 0.934 | 0.772 | 0.699609318542 | gnomAD-4.0.0 | 6.84927E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00263E-07 | 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 | 0.88 | likely_pathogenic | 0.8257 | pathogenic | -2.274 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.729171428 | None | None | N |
| P/C | 0.9835 | likely_pathogenic | 0.9756 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/D | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.405 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/E | 0.9991 | likely_pathogenic | 0.9981 | pathogenic | -3.185 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/G | 0.997 | likely_pathogenic | 0.9943 | pathogenic | -2.774 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/H | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -2.456 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/I | 0.9417 | likely_pathogenic | 0.9067 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/L | 0.9492 | likely_pathogenic | 0.9185 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.831572453 | None | None | N |
| P/M | 0.992 | likely_pathogenic | 0.9858 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/N | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -2.327 | Highly Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| P/Q | 0.9983 | likely_pathogenic | 0.997 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.834661925 | None | None | N |
| P/R | 0.9978 | likely_pathogenic | 0.9964 | pathogenic | -1.714 | Destabilizing | 1.0 | D | 0.934 | deleterious | D | 0.800723264 | None | None | N |
| P/S | 0.9933 | likely_pathogenic | 0.9895 | pathogenic | -2.821 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.834602258 | None | None | N |
| P/T | 0.9766 | likely_pathogenic | 0.9625 | pathogenic | -2.475 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.800179324 | None | None | N |
| P/V | 0.8232 | likely_pathogenic | 0.7295 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.929 | 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.