Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32637 | 98134;98135;98136 | chr2:178540257;178540256;178540255 | chr2:179404984;179404983;179404982 |
| N2AB | 30996 | 93211;93212;93213 | chr2:178540257;178540256;178540255 | chr2:179404984;179404983;179404982 |
| N2A | 30069 | 90430;90431;90432 | chr2:178540257;178540256;178540255 | chr2:179404984;179404983;179404982 |
| N2B | 23572 | 70939;70940;70941 | chr2:178540257;178540256;178540255 | chr2:179404984;179404983;179404982 |
| Novex-1 | 23697 | 71314;71315;71316 | chr2:178540257;178540256;178540255 | chr2:179404984;179404983;179404982 |
| Novex-2 | 23764 | 71515;71516;71517 | chr2:178540257;178540256;178540255 | chr2:179404984;179404983;179404982 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs794729547  |
-3.095 | 0.989 | D | 0.721 | 0.558 | 0.795880955708 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-06 | 0 |
| I/T | rs794729547 |
-3.095 | 0.989 | D | 0.721 | 0.558 | 0.795880955708 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs794729547 |
-3.095 | 0.989 | D | 0.721 | 0.558 | 0.795880955708 | gnomAD-4.0.0 | 4.95755E-06 | None | None | None | None | N | None | 0 | 1.66683E-05 | None | 0 | 0 | None | 0 | 0 | 4.23804E-06 | 0 | 3.20215E-05 |
| I/V | rs572465445 |
-1.688 | 0.333 | N | 0.201 | 0.096 | 0.372087925617 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs572465445 |
-1.688 | 0.333 | N | 0.201 | 0.096 | 0.372087925617 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs572465445 |
-1.688 | 0.333 | N | 0.201 | 0.096 | 0.372087925617 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/V | rs572465445 |
-1.688 | 0.333 | N | 0.201 | 0.096 | 0.372087925617 | gnomAD-4.0.0 | 6.56668E-06 | None | None | None | None | N | None | 2.40604E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9268 | likely_pathogenic | 0.9107 | pathogenic | -2.965 | Highly Destabilizing | 0.992 | D | 0.686 | prob.neutral | None | None | None | None | N |
| I/C | 0.9726 | likely_pathogenic | 0.9656 | pathogenic | -2.183 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| I/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.825 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| I/E | 0.9969 | likely_pathogenic | 0.9967 | pathogenic | -3.511 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| I/F | 0.8195 | likely_pathogenic | 0.7871 | pathogenic | -1.847 | Destabilizing | 0.998 | D | 0.632 | neutral | N | 0.516048262 | None | None | N |
| I/G | 0.9959 | likely_pathogenic | 0.9955 | pathogenic | -3.555 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| I/H | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -3.26 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| I/K | 0.9946 | likely_pathogenic | 0.9952 | pathogenic | -2.471 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| I/L | 0.2153 | likely_benign | 0.2133 | benign | -1.181 | Destabilizing | 0.889 | D | 0.325 | neutral | N | 0.486334672 | None | None | N |
| I/M | 0.4024 | ambiguous | 0.3996 | ambiguous | -1.277 | Destabilizing | 0.998 | D | 0.64 | neutral | N | 0.497690517 | None | None | N |
| I/N | 0.9928 | likely_pathogenic | 0.9931 | pathogenic | -3.174 | Highly Destabilizing | 0.999 | D | 0.895 | deleterious | D | 0.527658057 | None | None | N |
| I/P | 0.9933 | likely_pathogenic | 0.9937 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| I/Q | 0.995 | likely_pathogenic | 0.995 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| I/R | 0.9911 | likely_pathogenic | 0.9921 | pathogenic | -2.409 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| I/S | 0.9834 | likely_pathogenic | 0.9826 | pathogenic | -3.698 | Highly Destabilizing | 0.998 | D | 0.84 | deleterious | D | 0.527658057 | None | None | N |
| I/T | 0.8811 | likely_pathogenic | 0.8643 | pathogenic | -3.23 | Highly Destabilizing | 0.989 | D | 0.721 | prob.delet. | D | 0.527404567 | None | None | N |
| I/V | 0.1271 | likely_benign | 0.1123 | benign | -1.768 | Destabilizing | 0.333 | N | 0.201 | neutral | N | 0.375137033 | None | None | N |
| I/W | 0.994 | likely_pathogenic | 0.994 | pathogenic | -2.32 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| I/Y | 0.9882 | likely_pathogenic | 0.9857 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.746 | 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.