Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25891 | 77896;77897;77898 | chr2:178568461;178568460;178568459 | chr2:179433188;179433187;179433186 |
| N2AB | 24250 | 72973;72974;72975 | chr2:178568461;178568460;178568459 | chr2:179433188;179433187;179433186 |
| N2A | 23323 | 70192;70193;70194 | chr2:178568461;178568460;178568459 | chr2:179433188;179433187;179433186 |
| N2B | 16826 | 50701;50702;50703 | chr2:178568461;178568460;178568459 | chr2:179433188;179433187;179433186 |
| Novex-1 | 16951 | 51076;51077;51078 | chr2:178568461;178568460;178568459 | chr2:179433188;179433187;179433186 |
| Novex-2 | 17018 | 51277;51278;51279 | chr2:178568461;178568460;178568459 | chr2:179433188;179433187;179433186 |
| 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/H | rs766099071  |
None | 1.0 | D | 0.75 | 0.634 | 0.860916662216 | gnomAD-4.0.0 | 2.73758E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59843E-06 | 0 | 0 |
| P/L | rs766099071 |
None | 1.0 | D | 0.806 | 0.618 | None | gnomAD-4.0.0 | 1.43723E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.88918E-05 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.809 | 0.634 | 0.842370778736 | gnomAD-4.0.0 | 6.84396E-07 | None | None | None | None | N | None | 0 | 2.23784E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.765 | 0.651 | 0.797123327844 | gnomAD-4.0.0 | 6.84387E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99604E-07 | 0 | 0 |
| P/T | rs1214607347 |
-2.316 | 1.0 | D | 0.774 | 0.654 | 0.814158827376 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/T | rs1214607347 |
-2.316 | 1.0 | D | 0.774 | 0.654 | 0.814158827376 | gnomAD-4.0.0 | 2.73755E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52512E-05 | None | 0 | 0 | 1.79921E-06 | 1.15947E-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 | 0.9452 | likely_pathogenic | 0.9554 | pathogenic | -2.071 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | D | 0.630967685 | None | None | N |
| P/C | 0.9948 | likely_pathogenic | 0.9959 | pathogenic | -2.149 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.366 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -3.236 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/G | 0.9958 | likely_pathogenic | 0.9965 | pathogenic | -2.45 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| P/H | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.668951606 | None | None | N |
| P/I | 0.9931 | likely_pathogenic | 0.9944 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.75 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/L | 0.9807 | likely_pathogenic | 0.9839 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.627192329 | None | None | N |
| P/M | 0.9966 | likely_pathogenic | 0.9975 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/Q | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/R | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.652730441 | None | None | N |
| P/S | 0.9957 | likely_pathogenic | 0.9969 | pathogenic | -2.497 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.652528637 | None | None | N |
| P/T | 0.9898 | likely_pathogenic | 0.9919 | pathogenic | -2.262 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.652730441 | None | None | N |
| P/V | 0.9818 | likely_pathogenic | 0.9842 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.729 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.818 | 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.