Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21563 | 64912;64913;64914 | chr2:178584954;178584953;178584952 | chr2:179449681;179449680;179449679 |
| N2AB | 19922 | 59989;59990;59991 | chr2:178584954;178584953;178584952 | chr2:179449681;179449680;179449679 |
| N2A | 18995 | 57208;57209;57210 | chr2:178584954;178584953;178584952 | chr2:179449681;179449680;179449679 |
| N2B | 12498 | 37717;37718;37719 | chr2:178584954;178584953;178584952 | chr2:179449681;179449680;179449679 |
| Novex-1 | 12623 | 38092;38093;38094 | chr2:178584954;178584953;178584952 | chr2:179449681;179449680;179449679 |
| Novex-2 | 12690 | 38293;38294;38295 | chr2:178584954;178584953;178584952 | chr2:179449681;179449680;179449679 |
| 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/A | rs72646860  |
-2.258 | 1.0 | D | 0.733 | 0.593 | None | gnomAD-2.1.1 | 2.16E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.73E-05 | 0 |
| P/A | rs72646860 |
-2.258 | 1.0 | D | 0.733 | 0.593 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| P/A | rs72646860 |
-2.258 | 1.0 | D | 0.733 | 0.593 | None | gnomAD-4.0.0 | 1.36389E-05 | None | None | None | None | N | None | 5.34174E-05 | 0 | None | 0 | 0 | None | 0 | 3.29381E-04 | 1.27173E-05 | 0 | 1.60164E-05 |
| P/H | rs751700216 |
-1.832 | 1.0 | D | 0.821 | 0.555 | 0.847074222452 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| P/H | rs751700216 |
-1.832 | 1.0 | D | 0.821 | 0.555 | 0.847074222452 | gnomAD-4.0.0 | 6.84533E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16077E-05 | 0 |
| P/L | rs751700216 |
-1.062 | 1.0 | D | 0.82 | 0.538 | 0.907904393505 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.51042E-04 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs751700216 |
-1.062 | 1.0 | D | 0.82 | 0.538 | 0.907904393505 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93723E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs751700216 |
-1.062 | 1.0 | D | 0.82 | 0.538 | 0.907904393505 | gnomAD-4.0.0 | 6.57367E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93723E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | None | -1.513 | 1.0 | D | 0.841 | 0.558 | 0.846376825731 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| P/R | None | -1.513 | 1.0 | D | 0.841 | 0.558 | 0.846376825731 | gnomAD-4.0.0 | 2.0536E-06 | None | None | None | None | N | None | 0 | 2.23814E-05 | None | 0 | 0 | None | 0 | 0 | 1.79938E-06 | 0 | 0 |
| P/T | None | -2.529 | 1.0 | D | 0.8 | 0.582 | 0.817127349727 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/T | None | -2.529 | 1.0 | D | 0.8 | 0.582 | 0.817127349727 | gnomAD-4.0.0 | 3.42249E-06 | None | None | None | None | N | None | 0 | 2.23774E-05 | None | 0 | 0 | None | 0 | 0 | 1.79936E-06 | 0 | 3.31422E-05 |
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 | 0.8157 | likely_pathogenic | 0.7732 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.625533277 | None | None | N |
| P/C | 0.9523 | likely_pathogenic | 0.9155 | pathogenic | -2.025 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.367 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/E | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/G | 0.9942 | likely_pathogenic | 0.9941 | pathogenic | -2.952 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| P/H | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.663517199 | None | None | N |
| P/I | 0.8462 | likely_pathogenic | 0.8252 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/L | 0.861 | likely_pathogenic | 0.8697 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.647094229 | None | None | N |
| P/M | 0.9825 | likely_pathogenic | 0.9812 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.533 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/Q | 0.9963 | likely_pathogenic | 0.997 | pathogenic | -2.235 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/R | 0.9954 | likely_pathogenic | 0.9969 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.663315395 | None | None | N |
| P/S | 0.9842 | likely_pathogenic | 0.9824 | pathogenic | -2.997 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.66311359 | None | None | N |
| P/T | 0.9549 | likely_pathogenic | 0.9398 | pathogenic | -2.601 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.663315395 | None | None | N |
| P/V | 0.6721 | likely_pathogenic | 0.5879 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.775 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.826 | 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.