Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34999 | 105220;105221;105222 | chr2:178531620;178531619;178531618 | chr2:179396347;179396346;179396345 |
| N2AB | 33358 | 100297;100298;100299 | chr2:178531620;178531619;178531618 | chr2:179396347;179396346;179396345 |
| N2A | 32431 | 97516;97517;97518 | chr2:178531620;178531619;178531618 | chr2:179396347;179396346;179396345 |
| N2B | 25934 | 78025;78026;78027 | chr2:178531620;178531619;178531618 | chr2:179396347;179396346;179396345 |
| Novex-1 | 26059 | 78400;78401;78402 | chr2:178531620;178531619;178531618 | chr2:179396347;179396346;179396345 |
| Novex-2 | 26126 | 78601;78602;78603 | chr2:178531620;178531619;178531618 | chr2:179396347;179396346;179396345 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs727503532  |
-1.11 | 0.981 | D | 0.731 | 0.48 | 0.68047775509 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs727503532 |
-1.11 | 0.981 | D | 0.731 | 0.48 | 0.68047775509 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs727503532 |
-1.11 | 0.981 | D | 0.731 | 0.48 | 0.68047775509 | gnomAD-4.0.0 | 3.09815E-06 | None | None | None | None | N | None | 6.67379E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9585 | likely_pathogenic | 0.9733 | pathogenic | -2.04 | Highly Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
| L/C | 0.9506 | likely_pathogenic | 0.9681 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| L/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.823 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| L/E | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -2.541 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| L/F | 0.8347 | likely_pathogenic | 0.9178 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| L/G | 0.9949 | likely_pathogenic | 0.9963 | pathogenic | -2.541 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| L/H | 0.9971 | likely_pathogenic | 0.9982 | pathogenic | -2.579 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| L/I | 0.4456 | ambiguous | 0.5853 | pathogenic | -0.519 | Destabilizing | 0.91 | D | 0.41 | neutral | None | None | None | None | N |
| L/K | 0.9968 | likely_pathogenic | 0.9976 | pathogenic | -1.62 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| L/M | 0.3994 | ambiguous | 0.4798 | ambiguous | -0.892 | Destabilizing | 0.999 | D | 0.776 | deleterious | N | 0.517761734 | None | None | N |
| L/N | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| L/P | 0.999 | likely_pathogenic | 0.9996 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.560264121 | None | None | N |
| L/Q | 0.994 | likely_pathogenic | 0.9963 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.560264121 | None | None | N |
| L/R | 0.9924 | likely_pathogenic | 0.9951 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.560264121 | None | None | N |
| L/S | 0.9971 | likely_pathogenic | 0.9982 | pathogenic | -2.669 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| L/T | 0.9831 | likely_pathogenic | 0.9898 | pathogenic | -2.236 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| L/V | 0.4371 | ambiguous | 0.5975 | pathogenic | -1.021 | Destabilizing | 0.981 | D | 0.731 | prob.delet. | D | 0.547133389 | None | None | N |
| L/W | 0.9873 | likely_pathogenic | 0.994 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| L/Y | 0.992 | likely_pathogenic | 0.9957 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.825 | 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.