Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16288 | 49087;49088;49089 | chr2:178614652;178614651;178614650 | chr2:179479379;179479378;179479377 |
| N2AB | 14647 | 44164;44165;44166 | chr2:178614652;178614651;178614650 | chr2:179479379;179479378;179479377 |
| N2A | 13720 | 41383;41384;41385 | chr2:178614652;178614651;178614650 | chr2:179479379;179479378;179479377 |
| N2B | 7223 | 21892;21893;21894 | chr2:178614652;178614651;178614650 | chr2:179479379;179479378;179479377 |
| Novex-1 | 7348 | 22267;22268;22269 | chr2:178614652;178614651;178614650 | chr2:179479379;179479378;179479377 |
| Novex-2 | 7415 | 22468;22469;22470 | chr2:178614652;178614651;178614650 | chr2:179479379;179479378;179479377 |
| 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 | None | None | 1.0 | D | 0.847 | 0.725 | 0.865368311715 | gnomAD-4.0.0 | 6.84763E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65909E-05 |
| P/R | rs745848084  |
-0.586 | 1.0 | D | 0.86 | 0.743 | 0.818383550975 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| P/R | rs745848084 |
-0.586 | 1.0 | D | 0.86 | 0.743 | 0.818383550975 | gnomAD-4.0.0 | 3.42381E-06 | None | None | None | None | I | None | 2.99491E-05 | 2.24105E-05 | None | 0 | 0 | None | 0 | 0 | 2.69978E-06 | 0 | 0 |
| P/S | rs894986526 |
None | 1.0 | D | 0.851 | 0.738 | 0.592167511858 | gnomAD-4.0.0 | 3.18848E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.79049E-05 | None | 0 | 0 | 0 | 0 | 3.03177E-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 | 0.8311 | likely_pathogenic | 0.8134 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.683206367 | None | None | I |
| P/C | 0.9894 | likely_pathogenic | 0.987 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/D | 0.9994 | likely_pathogenic | 0.9987 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| P/E | 0.9982 | likely_pathogenic | 0.9969 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| P/F | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| P/G | 0.9864 | likely_pathogenic | 0.982 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| P/H | 0.9985 | likely_pathogenic | 0.9976 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.822623015 | None | None | I |
| P/I | 0.9929 | likely_pathogenic | 0.9904 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| P/K | 0.9988 | likely_pathogenic | 0.9979 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| P/L | 0.9806 | likely_pathogenic | 0.9734 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.76071944 | None | None | I |
| P/M | 0.9951 | likely_pathogenic | 0.993 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/N | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| P/Q | 0.997 | likely_pathogenic | 0.9953 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| P/R | 0.9967 | likely_pathogenic | 0.9946 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.821810099 | None | None | I |
| P/S | 0.99 | likely_pathogenic | 0.9869 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.729452689 | None | None | I |
| P/T | 0.9865 | likely_pathogenic | 0.9804 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.76691379 | None | None | I |
| P/V | 0.9778 | likely_pathogenic | 0.9715 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| P/W | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| P/Y | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
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.